Property Summary

NCBI Gene PubMed Count 47
PubMed Score 92.23
PubTator Score 76.30

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (18)

Disease log2 FC p
malignant mesothelioma -3.500 3.3e-08
astrocytic glioma -3.100 1.4e-03
ependymoma -3.200 4.2e-18
oligodendroglioma -1.900 2.0e-02
glioblastoma -3.100 2.7e-06
group 3 medulloblastoma -2.000 1.5e-04
cystic fibrosis 2.212 3.1e-07
periodontitis -1.300 2.5e-25
atypical teratoid / rhabdoid tumor -2.900 5.7e-07
medulloblastoma, large-cell -3.500 9.3e-06
primitive neuroectodermal tumor -1.500 3.3e-03
Atopic dermatitis -1.600 1.1e-02
adrenocortical carcinoma 1.574 6.1e-03
tuberculosis -1.500 5.5e-06
non-small cell lung cancer 1.036 1.3e-07
adult high grade glioma -2.800 9.3e-06
pilocytic astrocytoma -1.900 6.3e-08
Pick disease -1.400 2.6e-02

Gene RIF (32)

PMID Text
26427403 different mutations in ELOVL4 can cause variable phenotypic neurological disorders (Review)
26110599 Both ELOVL4- and PROM1-related maculopathies are characterized by progressive photoreceptor atrophy and central vision loss. Using advanced diagnostic imaging, early disease changes and disease progression can be characterized.
26010696 Spinocerebellar ataxia was associated with a novel mutation in ELOVL4 in a large family pedigree.
25059952 In patients with intrahepatic cholestasis of pregnancy, there was no elevation in ELOVL4 mRNA in maternal circulation compared with controls.
24664752 We propose that transgenic expression of ELOVL4 in the liver will result in the biosynthesis of very long chain-PUFA that can be transported to target.
24664730 In this review, we summarize our current understanding of the disease-causing mutation and its potential role in STGD3 pathogenesis.
24571530 A novel homozygous nonsense mutation in ELOVL4 cuases a neuro-ichthyotic disorder with variable expressivity.
24566826 ELOVL4 is identified as the causative gene for erythrokeratodermia variabilis and spinocerebellar ataxia in a French-Canadian family.
23509295 Coexpression of different forms of wild-type and mutant ELOVL4 revealed a large dominant-negative effect of mutant protein on ELOVL4 localization and enzymatic activity, resulting in reduced VLC-PUFA synthesis.
22948568 5 single nucleotide polymorphisms (SNPs: rs3812153, rs7764439, rs390659, rs434102 and c:929G>A) were detected in ELOVL4.
22863181 Mutation in ELOVL4 gene is associated with Stargardt Disease.
22100072 recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease
21139992 Not only the ELOVL4-ELOVL4DeltaC homo-oligomeric interaction, but also several hetero-oligomeric interactions, may contribute to the pathology of Stargardt disease 3.
20801516 Observational study of genetic testing. (HuGE Navigator)
20522523 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20388345 There was no association between the M299V variant in ELOVL4 gene and exudative age-related macular degeneration in a Chinese population.
20388345 Observational study of gene-disease association. (HuGE Navigator)
20096366 Pathogenic mutations found in the ELOVL4 gene result in altered trafficking of the protein and behave with a dominant negative effect.
17356513 Role for Elovl4 in acylceramide synthesis, and in particular, a role in the synthesis of the unique very long chain C30-C40 fatty acids present in skin acylceramides.
17210851 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
17000705 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
16885922 Observational study of gene-disease association. (HuGE Navigator)
16885922 No association with AMD was detected with Met299Val polymorphism in the ELOVL4 gene in the familial or sporadic cases compared to non-AMD or blood donor controls.
16476896 This study demonstrates that dietary factors can influence the severity of an inherited human macular dystrophy.
16364203 analysis of non-pathogenic polymorphisms in the ELOVL4 in Chinese patients with autosomal dominant STGD3-like macular dystrophy
16036915 ELOVL4 contributes to the autosomal dominant inheritance of Stargardt-like macular dystrophy
15930014 Observational study of gene-disease association. (HuGE Navigator)
15028284 mutations in ELOVL4 result in the intracellular misrouting of the protein in macular degeneration
12967813 DNA sequence analysis showed a 5-bp deletion in exon 6 of the ELOVL4 gene, confirming the diagnosis of autosomal dominant Stargardt-like macular dystrophy.
12824221 The ELOVL4 gene is highly conserved throughout evolution and is expressed in the photoreceptor cells of the retina in a variety of different species
12592226 Recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene.
11474659 mutational analysis shows ELOVL4 is not involved in the pathogenesis of RP25

AA Sequence

MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFVWLGPKWMKDR      1 - 70
EPFQMRLVLIIYNFGMVLLNLFIFRELFMGSYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYL     71 - 140
DTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYGLTAFGPWIQK    141 - 210
YLWWKRYLTMLQLIQFHVTIGHTALSLYTDCPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGK    211 - 280
TAMNGISANGVSKSEKQLMIENGKKQKNGKAKGD                                        281 - 314
//

Text Mined References (46)

PMID Year Title
26427403 2016 Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.
26110599 2016 INSIGHTS INTO AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY THROUGH MULTIMODALITY DIAGNOSTIC IMAGING.
26010696 2015 A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
25059952 2015 Intrahepatic Cholestasis of Pregnancy: mRNAs for LIPF and ELOVL4 Genes Are Not Detectable in Circulating Maternal Plasma.
24664752 2014 Biosynthesis of very long-chain polyunsaturated fatty acids in hepatocytes expressing ELOVL4.
24664730 2014 Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4.
24571530 2014 A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.
24566826 2014 Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
23669352 2013 Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
23509295 2013 Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.
22948568 2012 Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.
22863181 2012 Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.
22773346 2013 Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
22100072 2011 Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
21139992 2010 Hetero-oligomeric interactions of an ELOVL4 mutant protein: implications in the molecular mechanism of Stargardt-3 macular dystrophy.
20937905 2010 ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20522523 2010 Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
20388345 2010 [Association of M299V variant in ELOVL4 gene with exudative age-related macular degeneration in a Chinese population].
20096366 2010 Genetics and molecular pathology of Stargardt-like macular degeneration.
17356513 2007 Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17210851 2007 Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17000705 2006 CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.
16885922 2006 Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.
16476896 2006 Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation.
16364203 Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16036915 2005 Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.
15930014 2005 Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15028284 2004 Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12967813 2003 Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene.
12824221 2003 Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina.
12592226 2003 Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11581213 2001 A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family.
11474659 2001 Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus.
11138005 2001 A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
10218695 1999 Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14.
8944226 1996 Biosynthesis of triacylglycerols.
8002834 1994 Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q.
8002833 1994 A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34.