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MGP003009

Record overview

MGPD IDMGP003009
Gene ID6785
SpeciesHomo sapiens (Human)
Gene NameELOVL fatty acid elongase 4
Gene Symbol ELOVL4
SynonymsADMD; CT118; ISQMR; SCA34; STGD2; STGD3;
Alternate nameselongation of very long chain fatty acids protein 4; 3-keto acyl-CoA synthase ELOVL4; ELOVL FA elongase 4; cancer/testis antigen 118; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4; very-long-chain 3-oxoacyl-CoA synthase 4;
Chromosome6
Map Location6q14
EC Number2.3.1.199
SummaryThis gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for ELOVL4

Proteins

elongation of very long chain fatty acids protein 4
Refseq ID:NP_073563
Protein GI:12232379
UniProt ID:Q9GZR5
mRNA ID:NM_022726
Length:314
RefSeq Status:
MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFVWLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMG
SYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYG
LTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTDCPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMI
ENGKKQKNGKAKGD
 
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