Disease-gene associations mined from literature

Literature associating ELOVL6 and fetal akinesia deformation sequence syndrome

ELOVL6 [ENSP00000378105]

Elongation of very long chain fatty acids protein 6; 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 elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. 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; Belongs to the ELO family. ELOVL6 subfamily.

Synonyms:  ELOVL6,  ELOVL6p,  hELOVL6,  A0A024RDK5,  D6RBP4 ...

Linkouts:  STRING  Pharos  UniProt