Summary
Performance
Immunogen
Application
Background
This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015],catalytic activity:Acyl-CoA + glycerone phosphate = CoA + acylglycerone phosphate.,disease:Defects in GNPAT are the cause of rhizomelic chondrodysplasia punctata type 2 (RCDP2) [MIM:222765]. RDCP2 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation.,domain:The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.,pathway:Membrane lipid metabolism; glycerophospholipid metabolism.,similarity:Belongs to the GPAT/DAPAT family.,subcellular location:Exclusively localized to the lumenal side of the peroxisomal membrane.,subunit:May be part of an heterotrimeric complex composed of DAP-AT, ADAP-S and a modified form of DAP-AT.,
Research Area
Glycerophospholipid metabolism;
