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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Acyl-CoA:dihydroxyacetonephosphateacyltransferase; DAP-AT; DHAP-AT; Dihydroxyacetone phosphate acyltransferase; Glycerone-phosphate O-acyltransferase
基因别名: DAP-AT; DAPAT; DHAPAT; GNPAT; RCDP2
UniProt ID: (Human) O15228
Entrez Gene ID: (Human) 8443