FAR1

Chr 11

fatty acyl-CoA reductase 1

ENSG00000197601 UniProt: Q8WVX9

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.

ResearchSummary from RefSeq, OMIM, UniProt

Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123, PubMed:35238077). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123, PubMed:33239752). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity) (PubMed:24108123, PubMed:35238077)

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPeroxisomal fatty acyl-CoA reductase 1 disorder

UniProtCataracts, spastic paraparesis, and speech delay

Clinical highlights

Gene-disease validity (ClinGen)

fatty acyl-CoA reductase 1 upregulation · ADModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (2)

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