Aliases for FAR1 Gene
External Ids for FAR1 Gene
Previous HGNC Symbols for FAR1 Gene
Previous GeneCards Identifiers for FAR1 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]
GeneCards Summary for FAR1 Gene
FAR1 (Fatty Acyl-CoA Reductase 1) is a Protein Coding gene. Diseases associated with FAR1 include Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder and Rhizomelic Chondrodysplasia Punctata, Type 5. Among its related pathways are Metabolism and Peroxisome. GO annotations related to this gene include coenzyme binding and long-chain-fatty-acyl-CoA reductase activity. An important paralog of this gene is FAR2.
UniProtKB/Swiss-Prot for FAR1 Gene
Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity).