This 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.
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Protein Aliases: 3-keto acyl-CoA synthase ELOVL4; cancer/testis antigen 118; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4; Elongation of very long chain fatty acids protein 4; ELOVL FA elongase 4; ELOVL fatty acid elongase 4; FLJ17667; FLJ92876; Very long chain 3-ketoacyl-CoA synthase 4; Very long chain 3-oxoacyl-CoA synthase 4; very-long-chain 3-oxoacyl-CoA synthase 4
Gene Aliases: ADMD; CT118; ELOVL4; ISQMR; SCA34; STGD2; STGD3
Molecular Function: acyltransferase