FAR1 Chromosome 11
Fatty acyl-CoA reductase 1
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What This Gene Does
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]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
11p15.3
Ensembl
ENSG00000197601
Associated Conditions (8)
Fatty acyl-CoA reductase 1 deficiency
Inborn genetic diseases
FAR1-related disorder
CATARACTS
SPASTIC PARAPLEGIA
AND SPEECH DELAY
FAR1-related neurodevelopmental disorder
SPASTIC PARAPARESIS
Key Variants
RS12793516
Conflicting classifications of pathogenicity
Fatty acyl-CoA reductase 1 deficiency, Inborn genetic diseases, FAR1-related disorder
Health Risk
RS146816221
Conflicting classifications of pathogenicity
FAR1-related disorder, FAR1-related disorder
Health Risk
RS12799308
Likely pathogenic
CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY
Health Risk
RS1591268116
Likely pathogenic
Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency
Health Risk
RS727502796
Likely pathogenic
Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency
Health Risk
RS1057517926
Pathogenic
CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY
Health Risk
RS1848291332
Pathogenic
Health Risk
RS1848451807
Pathogenic
Health Risk
RS2134191508
Pathogenic
Health Risk
RS2134193085
Pathogenic
Health Risk
RS724159962
Pathogenic
Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency
Health Risk
RS724159963
Pathogenic
Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12793516 | Health Risk | Conflicting classifications of pathogenicity | Fatty acyl-CoA reductase 1 deficiency, Inborn genetic diseases, FAR1-related disorder |
| RS146816221 | Health Risk | Conflicting classifications of pathogenicity | FAR1-related disorder, FAR1-related disorder |
| RS12799308 | Health Risk | Likely pathogenic | CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY |
| RS1591268116 | Health Risk | Likely pathogenic | Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency |
| RS727502796 | Health Risk | Likely pathogenic | Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency |
| RS1057517926 | Health Risk | Pathogenic | CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY |
| RS1848291332 | Health Risk | Pathogenic | — |
| RS1848451807 | Health Risk | Pathogenic | — |
| RS2134191508 | Health Risk | Pathogenic | — |
| RS2134193085 | Health Risk | Pathogenic | — |
| RS724159962 | Health Risk | Pathogenic | Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency |
| RS724159963 | Health Risk | Pathogenic | Fatty acyl-CoA reductase 1 deficiency, Fatty acyl-CoA reductase 1 deficiency |