基因名:
GNPAT
产品别名:
DAP-AT; DAPAT; DHAPAT; RCDP2; GNPAT; glyceronephosphate O-acyltransferase; glyceronephosphate O-acyltransferase; dihydroxyacetone phosphate acyltransferase; DHAP-AT; acyl-CoA:dihydroxyacetonephosphateacyltransferase; glycerone-phosphate O-acyltransferase; 磷酸二羟丙酮酰基转移酶;
背景信息:
GNPAT is a key enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in GNPAT are associated with rhizomelic chondrodysplasia punctata type 2, which is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.