GNPAT
Reaktivität: Human
WB, ELISA, IHC
Wirt: Kaninchen
Polyclonal
unconjugated
Applikationshinweise
Western Blot: 1/500 - 1/1000. Immunohistochemistry: 1/50 - 1/200. Other applications not tested. Optimal dilutions are dependent on conditions and should be determined by the user.
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.Synonyms: Acyl-CoA:dihydroxyacetonephosphateacyltransferase, DHAPAT, Dihydroxyacetone phosphate acyltransferase, Glycerone-phosphate O-acyltransferase