Disease-gene associations mined from literature

Literature associating ELOVL5 and fetal akinesia deformation sequence syndrome

ELOVL5 [ENSP00000359956]

Elongation of very long chain fatty acids protein 5; 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 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.

Synonyms:  ELOVL5,  ELOVL5p,  hELOVL5,  A0A024RD35,  A0A024RD61 ...

Linkouts:  STRING  Pharos  UniProt