DISEASES

Disease-gene associations mined from literature

Literature associating AWAT2 and distal arthrogryposis type 3

AWAT2 [ENSP00000421172]

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 ...

Linkouts:  STRING  Pharos  UniProt