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 acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA.
Biological Context
Subcellular Location: Endoplasmic reticulum membrane (Multi-pass membrane protein); Cell projection, dendrite
Tissue Specificity: Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Expressed in the cerebellum
Disease Association: Spinocerebellar ataxia 38 (SCA38) : A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA38 is an autosomal dominant form characterized by adult-onset of slowly progressive gait ataxia accompanied by nystagmus. Brain MRI shows cerebellar atrophy. [The disease is caused by variants affecting the gene represented in this entry]
Pathway: Lipid metabolism; polyunsaturated fatty acid biosynthesis
Product Specifications
Recombinant Human Very long chain fatty acid elongase 5 (ELOVL5) Protein is a recombinant protein from Homo sapiens (Human), expressed in in vitro E.coli expression system, covering amino acids 1-299aa, with N-terminal 10xHis-tagged tag, molecular weight 36.8kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
