Anti-Human/Mouse ELOVL4 Polyclonal Antibody

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.ELOVL4 (ELOVL Fatty Acid Elongase 4) is a Protein Coding gene. Diseases associated with ELOVL4 include Spinocerebellar Ataxia 34 and Ichthyosis, Spastic Quadriplegia, And Mental Retardation. Among its related pathways are Fatty acid elongation and Fatty Acyl-CoA Biosynthesis. GO annotations related to this gene include transferase activity and G-protein coupled photoreceptor activity. An important paralog of this gene is ELOVL7.