DISEASES

Disease-gene associations mined from literature

Literature associating ELOVL4 and retinitis pigmentosa 25

ELOVL4 [ENSP00000358831]

Elongation of very long chain fatty acids protein 4; Catalyzes the first and rate-limiting reaction of the four 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 specifically elongates C24:0 and C26:0 acyl-CoAs. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths 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; Belongs to the ELO family. ELOVL4 subfamily.

Synonyms:  ELOVL4,  ELOVL4p,  hELOVL4,  Q9GZR5,  Q9GZR5p ...

Linkouts:  STRING  Pharos  UniProt  OMIM