FAR1 Gene: Fatty Acyl-CoA Reductase 1
Essential for ether lipid biosynthesis and peroxisomal function
Gene Information Card
| Symbol | FAR1 |
|---|---|
| Full Name | Fatty Acyl-CoA Reductase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11p15.2 |
| NCBI Gene ID | 84188 ncbi.nlm.nih.gov/gene/84188 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q8WVX9 |
| OMIM ID | 616107 |
| HGNC ID | 28222 |
| Aliases | FLJ11273, MRTX1, SDR17C1 |
Description
FAR1 encodes fatty acyl-CoA reductase 1, a peroxisomal enzyme that catalyzes the reduction of fatty acyl-CoA to fatty alcohols, a key step in ether lipid (plasmalogen) biosynthesis. The enzyme is essential for normal peroxisomal function and is implicated in peroxisomal biogenesis disorders. Mutations in FAR1 cause a recessive neurodevelopmental syndrome with spasticity, intellectual disability, and skeletal anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| FAR1 deficiency (Peroxisomal fatty acyl-CoA reductase 1 disorder) | Loss-of-function mutations impair fatty alcohol production, disrupting ether lipid synthesis and peroxisomal membrane integrity. | PMID: 28132693, ClinVar |
| Spastic paraplegia with intellectual disability | Biallelic FAR1 variants lead to progressive spasticity and cognitive impairment. | PMID: 28132693 |
| Peroxisomal biogenesis disorder-like phenotype | Deficient plasmalogen levels mimic Zellweger spectrum disorders. | PMID: 28132693 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.2 | Medium |
| Adrenal gland | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cells |
| HepG2 | 7.5 | Hepatocellular carcinoma |
| SH-SY5Y | 11.2 | Neuroblastoma |
| HeLa | 6.3 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.658C>T (p.Arg220*) | Nonsense | Rare | Loss of function; premature truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Likely loss of function; impaired catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause FAR1 deficiency, reducing fatty alcohol and plasmalogen levels.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • acyl-CoA reductase activity (GO:0003995) | • lipid biosynthetic process (GO:0008610) |
| • peroxisome (GO:0005777) | • integral component of membrane (GO:0016021) |
| • oxidation-reduction process (GO:0055114) |
Pathways
• Ether lipid metabolism (Reactome: R-HSA-1483206)
• Peroxisomal lipid metabolism (Reactome: R-HSA-8978868)
Protein Summary
FAR1 is a 515-amino acid peroxisomal membrane protein belonging to the short-chain dehydrogenase/reductase (SDR) family. It catalyzes the NADPH-dependent reduction of palmitoyl-CoA and other long-chain fatty acyl-CoAs to corresponding fatty alcohols, which are essential for plasmalogen synthesis. The protein contains a transmembrane domain and a conserved NADPH-binding motif. Defects in FAR1 lead to accumulation of acyl-CoA substrates and deficiency of ether lipids, disrupting peroxisomal function and causing neurological disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAR1 Knockout HEK293 Cell Line | EDJ-KQ10005 | Human | 84188 | Details Get a Quote |
| FAR1 Knockout A-549 Cell Line | EDJ-KQ36979 | Human | 84188 | Details Get a Quote |
| FAR1 Knockout HCT 116 Cell Line | EDJ-KQ36980 | Human | 84188 | Details Get a Quote |
| FAR1 Knockout HeLa Cell Line | EDJ-KQ36981 | Human | 84188 | Details Get a Quote |
