Analysis of ABCC8 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2465-LGZ)

Introduction

Official Full Name: ATP binding cassette subfamily C member 8<br />Also known as: HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; PNDM3; TNDM2; SUR1delta2<br />The protein encoded by this gene is a member of the ATP-binding cassette transporter superfamily. ABC proteins transport various molecules outside and inside the cell membrane. The ABC genes are grouped into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily and is involved in multidrug resistance. This protein acts as a regulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiency of the encoded protein have been observed in hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated insulin secretion and hyperglycemia. The mutation is also associated with non-insulin-dependent diabetes mellitus, an autosomal dominant disorder of defective insulin secretion. Alternative splicing transcript variants of this gene have been identified.