GNPAT Polyclonal Antibody, 100ul Isothermal Amplification Multiple transcript variants due to

Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene

Mutations in ANKRD26 are associated with autosomal dominant thrombocytopenia-2

Defects in ACTC1 have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC)

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases

REPS1 (RALBP1 associated Eps domain containing 1) encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling

GNPAT Polyclonal Antibody, 100ul Isothermal Amplification Multiple transcript variants due toGNPAT (glyceronephosphate O acyltransferase) encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in GNPAT are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for GNPAT.