Analysis of KCNJ11 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2392-LGZ)

Introduction

Official Full Name: potassium inwardly rectifying channel subfamily J member 11
Also known as: BIR; HHF2; PHHI; IKATP; PNDM2; TNDM3; KIR6.2; MODY13
Potassium channels are present in most mammalian cells and they are involved in a wide range of physiological responses. The protein encoded by this gene is an integral membrane protein and inwardly rectifying potassium channel. This encoded protein, which favors the flow of potassium into cells rather than out, is controlled by the G protein and was found to be associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also lead to autosomal dominant non-insulin-dependent diabetes mellitus type 2 (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants encoding different protein isoforms have been described for this gene.