LMPD Database

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LMP006755

Record overview

LMPD IDLMP006755
Gene ID6785
SpeciesHomo sapiens (Human)
Gene NameELOVL fatty acid elongase 4
Gene SymbolELOVL4
SynonymsADMD; CT118; ISQMR; SCA34; STGD2; STGD3
Alternate nameselongation of very long chain fatty acids protein 4; ELOVL FA elongase 4; cancer/testis antigen 118; 3-keto acyl-CoA synthase ELOVL4; very-long-chain 3-oxoacyl-CoA synthase 4; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 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:REVIEWED
MGLLDSEPGSVLNVVSTALNDTVEFYRWTWSIADKRVENWPLMQSPWPTLSISTLYLLFVWLGPKWMKDREPFQMRLVLIIYNFGMVLLNLFIFRELFMG
SYNAGYSYICQSVDYSNNVHEVRIAAALWWYFVSKGVEYLDTVFFILRKKNNQVSFLHVYHHCTMFTLWWIGIKWVAGGQAFFGAQLNSFIHVIMYSYYG
LTAFGPWIQKYLWWKRYLTMLQLIQFHVTIGHTALSLYTDCPFPKWMHWALIAYAISFIFLFLNFYIRTYKEPKKPKAGKTAMNGISANGVSKSEKQLMI
ENGKKQKNGKAKGD