ELOVL4: Proteins and Enzymes

Mutations in ELOVL4, a 38-39 kDa protein photoreceptor cell-specific protein involved in the elongation of very long chain fatty acids, are linked with Stargardt-like macular dystrophy (STGD3), autosomal dominant macular dystrophy, and other pattern dystrophy. The ELOVL4 gene is homologous to mammalian and yeast enzymes involved in the membrane-bound fatty acid chain elongation system. It has been suggested that alterations in the biosynthesis of fatty acids may be implicated in the pathogenesis of inherited macular degeneration.