DISEASES

Disease-gene associations mined from literature

Literature associating FAR1 and rhizomelic chondrodysplasia punctata type 5

FAR1 [ENSP00000346874]

Male sterility domain-containing protein 2; Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols. In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity).

Synonyms:  FAR1,  FAR1p,  hFAR1,  E9PNW8,  E9PPB8 ...

Linkouts:  STRING  Pharos  UniProt