Literature associating AWAT2 and distal arthrogryposis type 3
Diacylglycerol O-acyltransferase 2-like protein 4; Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl- CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo.
Synonyms: AWAT2, AWAT2p, hAWAT2, H0YAL0, Q6E213 ...