Rabbit anti-Human ABCC8 Polyclonal Antibody

Uniprot Id

Q09428

Target Species

Human

Target Name

ABCC8

Target Full Name

ATP-binding cassette sub-family C member 8

Target Function

Subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.

Target Involvement

Leucine-induced hypoglycemia (LIH); Familial hyperinsulinemic hypoglycemia 1 (HHF1); Diabetes mellitus, permanent neonatal (PNDM); Transient neonatal diabetes mellitus 2 (TNDM2)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein.

Target Protein Families

ABC transporter superfamily, ABCC family, Conjugate transporter (TC 3.A.1.208) subfamily

Target Synonyms

HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; PNDM3; TNDM2; SUR1delta2; ABCC8

Target Background

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene.