AWAT1 Chromosome X
Acyl-CoA wax alcohol acyltransferase 1
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What This Gene Does
The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Diacylglycerol O-acyltransferase 2 family
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000204195
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139503903 | Health Risk | Conflicting classifications of pathogenicity | — |