Elongation Of Very Long Chain Fatty Acids Like Protein 4 (ELOVL4)

ELOVL4 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.

This novel candidate gene, ELOVL4, encodes a putative protein of 314 amino acids with approximately 35% amino acid identity to members of the yeast ELO family. The authors identified a mouse ortholog of human ELOVL4 (92% amino acid identity) after extending a single mouse skin EST.