基因名:
ELP4
产品别名:
AN; AN2; C11orf19; PAX6NEB; PAXNEB; dJ68P15A.1; hELP4; ELP4; elongator acetyltransferase complex subunit 4; elongator acetyltransferase complex subunit 4; elongator complex protein 4; PAX6 neighbor gene protein; elongation protein 4 homolog; ELP4蛋白;
背景信息:
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]