AWAT2
Description
The AWAT2 (acyl-CoA wax alcohol acyltransferase 2) is a protein-coding gene located on chromosome X.
AWAT2 is an acyltransferase that forms wax monoesters by linking fatty alcohols and fatty acyl-CoAs. It prefers medium-chain acyl-CoAs (C12-C16) and short-chain fatty alcohols (shorter than C20). Additionally, AWAT2 exhibits acyl-CoA retinol acyltransferase (ARAT) activity, specifically esterifying 11-cis-retinol, a precursor to bleached opsin pigments in cone cells. Its catalytic efficiency is higher for 11-cis-retinol compared to other retinol isomers (9-cis, 13-cis, and all-trans).
AWAT2 is also known as ARAT, DC4, DGAT2L4, MFAT, WS.
Associated Diseases
- keratosis follicularis spinulosa decalvans
- ectodermal dysplasia-blindness syndrome
- Clouston syndrome
- isolated congenital alacrima
- acrodermatitis enteropathica
- Olmsted syndrome 1
- pili torti-onychodysplasia syndrome
- epithelial recurrent erosion dystrophy
- aniridia-ptosis-intellectual disability-familial obesity syndrome
- autosomal dominant palmoplantar keratoderma and congenital alopecia
- IFAP syndrome 2
- ring dermoid of cornea
- congenital non-bullous ichthyosiform erythroderma
- dermatitis, atopic
- KID syndrome
- erythrokeratodermia variabilis
- hypohidrotic ectodermal dysplasia
- autosomal recessive palmoplantar keratoderma and congenital alopecia
