FAR2

fatty acyl-CoA reductase 2

Summary

This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]

Known Variants32 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13920978612:29,308,228T/Aintron variant—
rs56897002512:29,362,019A/G——
rs493117012:29,388,772A/Gintron variant—
rs14198564712:29,423,410G/A—uncertain significance
rs131157337212:29,423,512G/A—uncertain significance
rs130320447912:29,423,518C/A—uncertain significance
rs77117802612:29,423,521A/G—uncertain significance
rs75143602812:29,423,548G/A—uncertain significance
rs201559912:29,435,480G/Aregulatory region variant—
rs1077151112:29,437,217T/G——
rs37078731412:29,446,239G/C—uncertain significance
rs134870387212:29,446,249A/G—uncertain significance
rs75456441212:29,446,254G/A—uncertain significance
rs249818367712:29,446,335A/T—uncertain significance
rs78021518212:29,449,997C/G—uncertain significance
rs77842683612:29,460,665C/G—uncertain significance
rs18118655112:29,463,953C/T—benign
rs194934168212:29,463,987A/G—uncertain significance
rs86840666012:29,464,036G/A—uncertain significance
rs36996082912:29,464,039A/G—uncertain significance
rs249826802612:29,464,821A/T—uncertain significance
rs103875002312:29,469,791A/G—uncertain significance
rs37111845512:29,469,891G/A—uncertain significance
rs76930076212:29,474,768A/G—uncertain significance
rs102373288012:29,474,790G/A—uncertain significance
rs18437558012:29,474,808C/T—uncertain significance
rs75521322212:29,474,856G/A—uncertain significance
rs53877834812:29,477,358C/G——
rs14658945612:29,485,568G/A—benign
rs249833985312:29,485,626G/T—uncertain significance
rs76722486412:29,486,647C/G—uncertain significance
rs37573974812:29,486,702G/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.