Recombinant Human Fatty acyl-CoA reductase 1 (FAR1), Truncated

Uniprot Id

Q8WVX9

Target Species

Human

Target Name

FAR1

Target Full Name

Fatty acyl-CoA reductase 1

Target Function

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.

Target Involvement

Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD)

Target Subcellular Location

Peroxisome membrane; Single-pass membrane protein.

Target Protein Families

Fatty acyl-CoA reductase family

Target Synonyms

FAR1; MLSTD2; UNQ2423/PRO4981; Fatty acyl-CoA reductase 1; Male sterility domain-containing protein 2

Target Background

The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13.