Disease-gene associations mined from literature

Literature associating ELOVL2 and fetal akinesia deformation sequence syndrome

ELOVL2 [ENSP00000346693]

Elongation of very long chain fatty acids protein 2; 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. Acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n- 6) acyl-CoA. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA). May participate in the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators; Belongs to the ELO family. ELOVL2 subfamily.

Synonyms:  ELOVL2,  ELOVL2p,  hELOVL2,  A0A024QZV3,  Q9NXB9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM