Disease-gene associations mined from literature

Literature associating FADS2 and fetal akinesia deformation sequence syndrome

FADS2 [ENSP00000278840]

Delta(6) fatty acid desaturase; Component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids (HUFA) from precursor essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3). Catalyzes the first and rate limiting step in this pathway which is the desaturation of LA (18:2n-6) and ALA (18:3n-3) into gamma- linoleic acid (GLA) (18:3n-6) and stearidonic acid (18:4n-3) respectively and other desaturation steps. Highly unsaturated fatty acids (HUFA) play pivotal roles in many biological functions. It catalizes as well the introduction of a cis double bond in palmitate to produce the mono-unsaturated fatty acid sapienate, the most abundant fatty acid in sebum.

Synonyms:  FADS2,  FADS2p,  hFADS2,  B3KVS0,  E5RGD8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM