ELOVL4

678583603ENSG00000118402ENSMUSG00000032262Q9GZR5Q9EQC4NM_022726NM_148941NP_073563NP_683743Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.

[5][6] ELOVL4 is a member of a large family of fatty acid elongases (ELO) that catalyzes the rate-limiting step in the elongation of long chain fatty acids (LC-FA) into very long-chain saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids, collectively known as VLC-FA (very long chain fatty acid).

[7][8] ELOVL4 and its products are found in the brain, skin, retina, meibomian glands, testes and sperm.

[9][10][11][12][13][14][15] Known mutations of ELOVL4 in humans cause diseases such as Autosomal Dominant Stargardt-like Macular Dystrophy (STGD3), spinocerebellar ataxia-34 (SCA34), skin deformities and seizures.

This article on a gene on human chromosome 6 is a stub.