ELOVL4, Official Symbol ELOVL4provided by HGNC Official Full Name ELOVL fatty acid elongase 4provided by HGNC Primary source HGNC:HGNC:14415 See related Ensembl:ENSG00000118402 MIM:605512; AllianceGenome:HGNC:14415 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADMD; CT118; ISQMR; SCA34; STGD2; STGD3 Summary 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. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 21.8), brain (RPKM 9.7) and 8 other tissues See more Orthologs mouse all