Property Summary

NCBI Gene PubMed Count 47
Grant Count 70
R01 Count 53
Funding $14,114,843.24
PubMed Score 92.23
PubTator Score 76.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
malignant mesothelioma -3.500 0.000
astrocytic glioma -3.100 0.001
ependymoma -3.200 0.000
oligodendroglioma -1.900 0.020
glioblastoma -3.100 0.000
group 3 medulloblastoma -2.000 0.000
cystic fibrosis 2.212 0.000
periodontitis -1.300 0.000
atypical teratoid / rhabdoid tumor -2.900 0.000
medulloblastoma, large-cell -3.500 0.000
primitive neuroectodermal tumor -1.500 0.003
Atopic dermatitis -1.600 0.011
adrenocortical carcinoma 1.574 0.006
tuberculosis -1.500 0.000
non-small cell lung cancer 1.036 0.000
adult high grade glioma -2.800 0.000
pilocytic astrocytoma -1.900 0.000
Pick disease -1.400 0.026

Synonym

Accession Q9GZR5 B2R6B5 Q5TCS2 Q86YJ1 Q9H139
Symbols ADMD
CT118
ISQMR
SCA34
STGD2
STGD3

Gene

PANTHER Protein Class (2)

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.
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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.
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