Rabbit anti-Human ELOVL4 Polyclonal Antibody

Uniprot Id

Q9GZR5

Target Species

Human

Target Name

ELOVL4

Target Full Name

Very long chain fatty acid elongase 4

Target Function

Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.

Target Involvement

Stargardt disease 3 (STGD3); Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR); Spinocerebellar ataxia 34 (SCA34)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Target Protein Families

ELO family, ELOVL4 subfamily

Target Tissue Specificity

Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates.

Target Synonyms

ELOVL4; Elongation of very long chain fatty acids protein 4; 3-keto acyl-CoA synthase ELOVL4; ELOVL fatty acid elongase 4; ELOVL FA elongase 4; Very long chain 3-ketoacyl-CoA synthase 4; Very long chain 3-oxoacyl-CoA synthase 4

Target Background

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.