ELOVL5

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. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity).

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Lipid metabolism; polyunsaturated fatty acid biosynthesis.

Belongs to the ELO family. ELOVL5 subfamily.

Ubiquitous. Highly expressed in the adrenal gland and testis. Weakly expressed in prostate, lung and brain. Expressed in the cerebellum.

• Endoplasmic reticulum membrane
• Multi-pass membrane protein
• Cell projection
• Dendrite
• In Purkinje cells, the protein localizes to the soma and proximal portion of the dendritic tree.

ELOVL2, PRO0530, ELOVL5, Very long chain fatty acid elongase 5, 3-keto acyl-CoA synthase ELOVL5, ELOVL fatty acid elongase 5, Elongation of very long chain fatty acids protein 5, Fatty acid elongase 1, Very long chain 3-ketoacyl-CoA synthase 5, Very long chain 3-oxoacyl-CoA synthase 5, ELOVL FA elongase 5, hELO1

• entrezGene:60481
• omim:611805
• swissprot:Q9NYP7

Proteins

Metabolism

35293Da