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.
Belongs to the GPAT/DAPAT family.
The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
Peroxisome membrane. Exclusively localized to the lumenal side of the peroxisomal membrane.