Background: 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.
Description: Rabbit polyclonal to GNPAT
Immunogen: KLH conjugated synthetic peptide derived from GNPAT
Specificity: ·Reacts with Human, Mouse and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 77 kDa;
·Immunohistochemistry (Paraffin/frozen tissue section): 1/100-500;
·Immunocytochemistry: 1/100-200;
·ELISA: 1/500;
· Optimal working dilutions must be determined by the end user.