Property Summary

NCBI Gene PubMed Count 109
PubMed Score 123.21
PubTator Score 267.77

Knowledge Summary


No data available


  Differential Expression (2)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.200 3.3e-06
glioblastoma 1.400 4.3e-05

Protein-protein Interaction (5)

Gene RIF (58)

26686776 Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation
26454440 CCALD is the most common phenotype (64%) in our Chinese patients with X-ALD. Eight novel mutations in the ABCD1 gene identified are disease-causing mutations.
25835712 The current study demonstrates that a single splicing mutation affects the ABCD1 transcripts and the ALDP protein function.
25393703 As a result of loss of ABCD1, there is pathogenic accumulation of very long chain fatty acids which leads to mitochondrial dysfunction.
25275259 We detected the same mutation of the ABCD1 gene in two unrelated patients with X-linked adrenoleukodystrophy.
25234129 Exome sequencing in two brothers with distinct phenotype including congenital language disorder, growth retardation, intellectual disability and urinary and fecal incontinence, identifies missense mutations in ABCD1 and DACH2.
25044748 In the titel.
24597975 both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency
24480483 X-inactivation pattern of the ABCD1 gene is associated with symptomatic status in female X-linked adrenoleukodystrophy carriers.
24154795 We describe four unrelated women with a late-onset progressive spastic paraparesis and heterozygous mutations in the ABCD1 gene
23835273 This study unveil unequivocally that cryptic splicing-induced aberrant messenger-RNA carrying an internal frameshift deletion results from an intronic mutation in the ABCD1 gene.
23671276 in contrast to yeast cells, very long-chain acyl-CoA esters are transported into peroxisomes by ABCD1 independently of additional synthetase activity
23566833 Identified 8 mutationsof ABCD1 , including one novel deletion (c.1477_1488+11del23) and 7 known mutations.
23469258 Adrenoleukodystrophy and skewed x chromosome inactivation in favor of the mutatnt ABCD1 allele is associated with symptoms manifestation in heterozygotes from a Chinese pedigree.
23300730 Identification of novel mutations in ABCD1 in unrelated Argentinean X-linked adrenoleukodystrophy patients
23123468 Very long chain fatty acid (VLCFA) is beta-oxidized in ABCD1-dependent pathway, but the ABCD1-independent peroxisomal and mitochondrial beta-oxidation pathways significantly contribute to VLCFA beta-oxidation in astrocytes
22994209 Array comparative genomic hybridization analysis suggested that the deletion was a genomic rearrangement in the 90-kb span starting in exon 4 and included ABCD1
22280810 These results indicate that preferential X chromosome inactivation leads to the favored expression of the mutant ABCD1 allele.
21966424 Single germ line mutation was identified in each index case in ABCD1 gene. Results detected 4 novel mutations (2 missense and 2 deletion/insertion) and 3 novel SNPS. Data observed a variable protein expression in different patients.
21889498 standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD. The results were confirmed by sequencing. Genotype-phenotype correlation was also attempted
21700483 Amongst 489 X-linked adrenoleukodystrophy families, 20 cases in which the ABCD1 mutation was de novo in the index case, indicating that the mutation arose in the maternal germ line.
21273699 Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy is reported.
21145416 HsABCD1 and HsABCD2 have distinct substrate specificities
20661612 Observational study of gene-disease association. (HuGE Navigator)
20376793 Three female patients heterozygous for ABCD1 gene mutation were first reported in China, and a novel mutation, p.H283R, was identified in this X-linked adrenoleukodystrophy family.
20042197 A family harbors a novel deletion of 1 base pair in exon 8 at nucleotide position 2245 (2245delA) in the ABCD1 gene.
19787628 ABCD1 downregulation may be involved in human renal tumorigenesis.
19406751 study reports 3 novel ABCD1 gene variants (c.67_83del17, c.395G>A, c.1938_1939dupGG) in 3 unrelated Indian families with X-linked adrenoleukodystrophy
19343046 Observational study of gene-disease association. (HuGE Navigator)
19204726 Observational study of gene-disease association. (HuGE Navigator)
18973459 This study concluded that de novo mutations occurred in this gene resulting in the disease.
18481121 A family with combined point mutations of the hemophilia A (F8)and X-linked adrenoleukodystrophy (ABCD1) genes.
18306728 ABCD1 mutation in the ethiopathogenesis of X-linked adrenoleukodystrophy. Its defect causes accumulation of the very long chain fatty acids in the tissues of the central and peripheral nervous system, adrenal glands and in the body fluids.
17828604 ALDP deficiency enhances metabolic distress in oligodendrocytes that are compromised a priori by destabilised myelin. The age at which this occurs precedes the onset of axonal degeneration in Abcd1-deficient mice.
17761426 ALDP-encoding mRNA is most abundant in tissues with high energy requirements such as heart, muscle, liver, and the renal and endocrine systems. ALDP selectively occurs in specific cell types of the brain.
17662307 This study examined a patient with Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
17542813 mutant ALDPs, which have a mutation in COOH-terminal half of ALDP, including S606L, R617H, & H667D, were degraded by proteasomes after dimerization. region between transmembrane domain 2 and 3 is important for the targeting of ALDP to the peroxisome.
17504626 Observational study of genotype prevalence. (HuGE Navigator)
17285533 ABCD1 gene mutations were found in 4 cases of X-linked adrenoleukodystrophy with high VLCFAs levels of amniocytes, no mutation was found in other 4 cases with normal VLCFAs levels of amniocytes.
16331554 Data show that fetus 1 had R617G mutation on his ABCD1 gene and he was an adrenoleukodystrophy hemizygote. Fetus 2 had no P534R mutation on his ABCD1 gene and he was a normal hemizygote.
16087056 over half of the mutations (19/34) were located in exon 1 and exon 6, suggesting possible hot exons
16018167 Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. We report an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future.
15781447 analysis of the PEX19-binding site of human adrenoleukodystrophy protein
15772093 Accumulation of very long-chain fatty acids does not affect mitochondrial function in ABCD1 protein deficiency.
15001567 ABCA1-independent but cytoskeleton-dependent cholesterol removal pathway may help to prevent early atherosclerosis in Tangier disease.
14767898 There were no hot spot mutations in ABCD1 gene in China, mutations in gene were found over 70% of patients with ALD and the ABCD1 gene mutations identified revealed no obvious correlation between the type of mutation and phenotype.
14556192 For the first time, mutations in ABCD1 are identified in Chinese adrenoleukodystrophy patients in the mainland of China.
12624723 Six different missense mutations in ALD were identified in seven Japanese families.
12579499 The splice mutation in 5' end of intron 5 leading to abnormal splice in exon 5 and exon 6 appears to be one of the causes of X-linked recessive adrenoleukodystrophy.
12530690 Mutations are heterogeneously distributed over functional domains of ALDP and alter peroxisomal transport function.
12509471 ALDP facilitates the interaction between peroxisomes and mitochondria, resulting, when ALDP is deficient in X-ALD, in increased VLCFA accumulation
12175782 Eight novel mutations are described.
11992258 Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
11438993 mutational analysis in patients with X-linked adrenoleukodystrophy
10737980 Fifteen new mutations are described in Adrenoleukodystrophy patients
10551832 ALDP interacts with PMP70. This interaction occurs via the C-terminus of ALDP [361-745] and the C-terminus of PMP70 [338-659]. ALDP mutations P484R and R591Q abolish the interaction.
10551832 ALDP and ALDRP interact via their carboxy termini. ALDP mutations P484R and R591Q abolish this interaction. This interaction was demonstrated using human ALDP and murine ALDRP.
10551832 ALDP homodimerizes via the C-terminal cytosolic domain [361-745]. Residues Pro-484 and Arg-591 are important for the interaction.

AA Sequence


Text Mined References (114)

PMID Year Title
26686776 2016 Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.
26454440 2015 Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25835712 2015 Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.
25393703 2015 ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy.
25275259 2014 Differing clinical presentations of two unrelated cases of X-linked adrenoleukodystrophy with identical mutation Y296C in the ABCD1 gene.
25234129 2014 Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.
25044748 2014 Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.
24597975 2015 Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
24480483 2014 X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24154795 2014 An under-recognised cause of spastic paraparesis in middle-aged women.
23835273 2013 Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
23671276 2013 Impaired very long-chain acyl-CoA ?-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.
23651979 2013 Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
23566833 2013 ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
23469258 2013 Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
23300730 2012 X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.
23123468 2012 Very long chain fatty acid ?-oxidation in astrocytes: contribution of the ABCD1-dependent and -independent pathways.
22994209 2013 Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case.
22280810 2012 Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
21966424 2011 Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.
21889498 2011 Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
21700483 X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
21273699 2010 Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.
21269460 2011 Initial characterization of the human central proteome.
21145416 2011 Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid ?-oxidation.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20810565 2010 Peroxisomal localization of the proopiomelanocortin-derived peptides beta-lipotropin and beta-endorphin.
20661612 2011 Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
20531392 2010 The peroxisomal receptor Pex19p forms a helical mPTS recognition domain.
20376793 2010 [A novel missense mutation resulting in X-linked adrenoleukodystrophy in female heterozygotes of a Chinese family].
20042197 2010 Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation.
19946888 2010 Defining the membrane proteome of NK cells.
19787628 Downregulation of ABCD1 in human renal cell carcinoma.
19406751 2009 Three novel variants in X-linked adrenoleukodystrophy.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19204726 2009 Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
18973459 2008 Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy.
18757502 2008 The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18481121 2008 A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.
18306728 2007 Adrenoleukodystrophy--a new mutation identified.
17828604 2007 Lack of adrenoleukodystrophy protein enhances oligodendrocyte disturbance and microglia activation in mice with combined Abcd1/Mag deficiency.
17761426 2007 Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy.
17662307 2007 Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
17609205 2007 Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).
17542813 2007 Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
17504626 2007 [Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].
17285533 2007 [Prenatal diagnosis of X-linked adrenoleukodystrophy].
16781659 2006 Molecular organization of peroxisomal enzymes: protein-protein interactions in the membrane and in the matrix.
16756494 2006 Biochemistry of mammalian peroxisomes revisited.
16331554 2005 Prenatal molecular diagnosis of adrenoleukodystrophy.
16087056 2005 ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.
16018167 2005 Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.
15781447 2005 Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved.
15772651 2005 The DNA sequence of the human X chromosome.
15772093 2005 Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.
15643618 2005 Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15001567 2004 The establishment of telomerase-immortalized Tangier disease cell lines indicates the existence of an apolipoprotein A-I-inducible but ABCA1-independent cholesterol efflux pathway.
14767898 2004 [X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].
14556192 2003 [Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene(ABCD1) in Chinese patients].
14533738 2003 Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif.
12624723 2003 Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy.
12579499 2003 [Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5].
12530690 2002 Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.
12509471 2003 Role of ALDP (ABCD1) and mitochondria in X-linked adrenoleukodystrophy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12210797 2002 Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.
12175782 2002 Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.
11992258 2002 Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
11883941 2002 Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly.
11810273 2001 Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.
11798073 2001 Molecular diagnostics in China.
11748843 2001 ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.
11500517 2001 Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.
11438993 2001 Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
11248239 2001 Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.
10980539 2000 Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
10777694 2000 Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.
10737980 2000 Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
10704444 2000 PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.
10640429 2000 Intraperoxisomal localization of very-long-chain fatty acyl-CoA synthetase: implication in X-adrenoleukodystrophy.
10551832 1999 Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.
10480364 X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
10369742 1999 Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
10190819 1999 Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.
9702690 1998 A Japanese family with adrenoleukodystrophy with a codon 291 deletion: a clinical, biochemical, pathological, and genetic report.
9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
9425230 1998 Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
9215666 1997 Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity.
9195223 1997 Mutations in the adrenoleukodystrophy gene.
8651290 1996 Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
8566952 1996 Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
8535452 1995 Two intronic mutations in the adrenoleukodystrophy gene.
8520725 1995 Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil.
8507690 1993 Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.
8441467 1993 Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
8040304 1994 Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
8004093 1994 The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.
8002973 1994 Adrenoleukodystrophy gene encodes an 80 kDa membrane protein.
7959759 1994 Genomic organization of the adrenoleukodystrophy gene.
7904210 1993 Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
7849723 1994 Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
7825602 1995 Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
7811247 1994 X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.
7717396 1995 Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
7668254 1995 Altered expression of ALDP in X-linked adrenoleukodystrophy.
7581394 1995 Mutational analysis of patients with X-linked adrenoleukodystrophy.
6795626 1981 Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.
6524872 1984 Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.
1746561 1991 Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.