FAR1, Official Symbol FAR1provided by HGNC Official Full Name fatty acyl-CoA reductase 1provided by HGNC Primary source HGNC:HGNC:26222 See related Ensembl:ENSG00000197601 MIM:616107; AllianceGenome:HGNC:26222 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSPSD; PFCRD; MLSTD2; SDR10E1 Summary 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] Expression Ubiquitous expression in esophagus (RPKM 26.7), stomach (RPKM 25.1) and 24 other tissues See more Orthologs mouse all