Alias |
3-keto acyl-CoA synthase ELOVL4, ADMD, Cancer/testis antigen 118, CT118, Elongation of very long chain fatty acids (FEN1/Elo2 SUR4/Elo3 yeast) like 4, Elongation of very long chain fatty acids like 4, Elongation of very long chain fatty acids protein 4, E |
Synonyms |
3-keto acyl-CoA synthase ELOVL4, ADMD, Cancer/testis antigen 118, CT118, Elongation of very long chain fatty acids (FEN1/Elo2 SUR4/Elo3 yeast) like 4, Elongation of very long chain fatty acids like 4, Elongation of very long chain fatty acids protein 4, ELOV L4, ELOV4, ELOVL 4, ELOVL4, FLJ17667, FLJ92876, Stargardt disease 3, Stargardt disease 3 autosomal dominant, STGD 2, STGD 3, STGD2, STGD3 |
Background |
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. |