FAR1
Chr 11ADARfatty acyl-CoA reductase 1
Also known as: CSPSD, MLSTD2, PFCRD, SDR10E1
This peroxisomal membrane protein catalyzes the reduction of fatty acyl-CoA to fatty alcohols, which are essential substrates for synthesizing ether lipids and plasmalogens. Mutations cause a spectrum of neurological disorders including severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spastic paraparesis. The condition follows both autosomal dominant and autosomal recessive inheritance patterns.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 0 | 0 | 0 | 2 |
Likely Pathogenic | 2 | 1 | 0 | 0 | 3 |
VUS | 1 | 93 | 8 | 5 | 107 |
Likely Benign | 0 | 1 | 36 | 41 | 78 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 5 | 95 | 45 | 46 | 191 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAR1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools