FAR2: Fatty Acyl-CoA Reductase 2
A key enzyme in fatty alcohol biosynthesis, associated with metabolic and neurological disorders.
Gene Information Card
| Symbol | FAR2 |
|---|---|
| Full Name | Fatty Acyl-CoA Reductase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p11.22 |
| NCBI Gene ID | 55711 ncbi.nlm.nih.gov/gene/55711 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q96K12 |
| OMIM ID | 611858 |
| HGNC ID | 25422 |
| Aliases | MLR, MGC13170, FLJ20489 |
Description
FAR2 encodes fatty acyl-CoA reductase 2, an enzyme that catalyzes the reduction of fatty acyl-CoA to fatty alcohols, a critical step in the biosynthesis of ether lipids and wax esters. The enzyme is localized to peroxisomes and is highly expressed in tissues with active lipid metabolism, such as liver and kidney. Mutations in FAR2 are associated with metabolic disorders and neurological phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sjögren-Larsson Syndrome-like phenotype | Impaired fatty alcohol oxidation due to FAR2 deficiency leads to accumulation of fatty alcohols, disrupting lipid homeostasis. | ClinVar, OMIM |
| Intellectual disability | Loss-of-function variants in FAR2 are linked to neurodevelopmental delay, possibly due to altered myelin lipid composition. | ClinVar, OMIM |
| Ichthyosis | Defective fatty alcohol metabolism in skin keratinocytes results in abnormal barrier function and scaling. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 4.1 | Low |
| Skin | 3.2 | Low |
| Testis | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| HEK293 | 6.7 | Embryonic kidney cells |
| SH-SY5Y | 3.5 | Neuroblastoma cell line |
| HaCaT | 2.9 | Keratinocyte cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.442C>T (p.Arg148Trp) | Missense | 0.02% | Reduced enzymatic activity, associated with intellectual disability |
| c.845G>A (p.Arg282Gln) | Missense | 0.01% | Impaired substrate binding, linked to ichthyosis |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg148Trp) reduce or abolish reductase activity, leading to fatty alcohol accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported in FAR2.
Dominant Negative (DN)
No dominant-negative mutations reported; FAR2 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • acyl-CoA dehydrogenase activity (GO:0003995) | • lipid metabolic process (GO:0006629) |
| • peroxisome (GO:0005777) | • integral component of membrane (GO:0016021) |
| • lipid biosynthetic process (GO:0008610) | • fatty acid metabolic process (GO:0006631) |
Pathways
• Ether lipid metabolism (Reactome: R-HSA-1483206)
• Fatty acid metabolism (KEGG: hsa00071)
• Peroxisomal lipid metabolism (Reactome: R-HSA-8978868)
Protein Summary
FAR2 is a 515-amino acid peroxisomal membrane protein that catalyzes the NADPH-dependent reduction of fatty acyl-CoA to fatty alcohols. It is essential for the synthesis of ether phospholipids and wax esters. The enzyme is highly conserved across eukaryotes and is expressed predominantly in liver and kidney. Structural studies indicate a transmembrane domain and a Rossmann fold for cofactor binding. Defects in FAR2 lead to accumulation of fatty alcohols, contributing to neurological and dermatological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAR2 Knockout HEK293 Cell Line | EDJ-KQ13449 | Human | 55711 | Details Get a Quote |
| FAR2 Knockout HCT 116 Cell Line | EDJ-KQ43006 | Human | 55711 | Details Get a Quote |
| FAR2 Knockout HeLa Cell Line | EDJ-KQ43007 | Human | 55711 | Details Get a Quote |
| FAR2 Knockout A-549 Cell Line | EDJ-KQ65118 | Human | 55711 | Details Get a Quote |
