Property Summary

NCBI Gene PubMed Count 109
Grant Count 41
R01 Count 21
Funding $5,852,164.58
PubMed Score 123.21
PubTator Score 267.77

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.200 0.000
glioblastoma 1.400 0.000

Gene RIF (58)

PMID Text
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
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AA Sequence

MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGVAAAKAGMNRV      1 - 70
FLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLARCIVRKDPRAFGWQLLQWLLI     71 - 140
ALPATFVNSAIRYLEGQLALSFRSRLVAHAYRLYFSQQTYYRVSNMDGRLRNPDQSLTEDVVAFAASVAH    141 - 210
LYSNLTKPLLDVAVTSYTLLRAARSRGAGTAWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELR    211 - 280
YMHSRVVANSEEIAFYGGHEVELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVP    281 - 350
IITATGYSESDAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAGYTARVH    351 - 420
EMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVEGPLKIRGQVVDVEQGIICENIPIVTPSGEVVV    421 - 490
ASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWPTYGGVLYKPPPQRMFYIPQRPYMSVGSLRDQVIYP    491 - 560
DSVEDMQRKGYSEQDLEAILDVVHLHHILQREGGWEAMCDWKDVLSGGEKQRIGMARMFYHRPKYALLDE    561 - 630
CTSAVSIDVEGKIFQAAKDAGIALLSITHRPSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTEEKQRLE    631 - 700
QQLAGIPKMQRRLQELCQILGEAVAPAHVPAPSPQGPGGLQGAST                             701 - 745
//

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.
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