GNPAT (F365) polyclonal antibody

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.