FAR1 gene

fatty acyl-CoA reductase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jan 2015]

From UniProt:

Catalyzes the reduction of saturated fatty acyl-CoA with chain length C16 or C18 to fatty alcohols.

From NCBI Gene:

  • Peroxisomal fatty acyl-coa reductase 1 disorder

From UniProt:

Peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD): An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. [MIM:616154]

Cytogenetic Location: 11p15.3, which is the short (p) arm of chromosome 11 at position 15.3

Molecular Location: base pairs 13,668,659 to 13,732,346 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p15.3, which is the short (p) arm of chromosome 11 at position 15.3
  • MLSTD2
  • PFCRD
  • SDR10E1