ABCC8
ABCC8 (ATP binding cassette subfamily C member 8, also known as SUR1) is a regulatory subunit of the pancreatic ATP-sensitive potassium channel and plays a major role in controlling insulin release. It belongs to the ABCC family of the ABC transporter superfamily. Browse Assay Genie's current range of ABCC8 research reagents below, or read on for the biology behind the target.
ABCC8 is the regulatory subunit of the pancreatic ATP-sensitive potassium (KATP) channel. In pancreatic cells it assembles with KCNJ11: KCNJ11 forms the channel pore, while ABCC8 is required for activation and regulation of the channel. Through this role, the ABCC8 protein acts as a modulator of KATP channels and has a major influence on the regulation of insulin release.
The ABCC8 gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily, whose proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven subfamilies, and ABCC8 sits in the MRP subfamily, a group associated with multi-drug resistance. UniProt places it in the ABCC family, in the conjugate transporter subfamily. The protein is found at the cell membrane, and alternatively spliced transcript variants have been reported for the gene. HGNC lists it within both the ABCC subfamily and the ATP-sensitive potassium channel subunits gene group.
The gene has also been known as SUR1, SUR, MRP8, ABC36, HI, PHHI, HHF1, TNDM2 and HRINS, and was previously named ATP-binding cassette, sub-family C (CFTR/MRP), member 8. Mutations in ABCC8 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. A rat ortholog, Abcc8, is recognised.
ABCC8 regulates the pancreatic KATP channel and plays a major role in controlling insulin release, making it central to studies of beta-cell function.
Mutations in ABCC8 have been associated with non-insulin-dependent diabetes mellitus type II, a disease of defective insulin secretion.
Deficiencies in the encoded protein are observed in hyperinsulinemic hypoglycemia of infancy, a recessive disorder of unregulated, high insulin secretion.
ABCC8 partners with KCNJ11, which forms the pore, to activate and regulate KATP channels, offering a model for ABC protein–channel coupling.
ABCC8 is a regulatory subunit of the pancreatic ATP-sensitive potassium (KATP) channel. It forms the channel with KCNJ11, which makes up the pore, while ABCC8 is required for channel activation and regulation. In this way it plays a major role in regulating insulin release.
ABCC8 is widely called SUR1 (sulfonylurea receptor 1). Other aliases include SUR, MRP8, ABC36, HI, PHHI, HHF1, TNDM2 and HRINS. Its earlier name was ATP-binding cassette, sub-family C (CFTR/MRP), member 8. Alternatively spliced transcript variants have been described for the gene.
Yes. Mutations in the ABCC8 gene and deficiencies in its protein have been observed in hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder. Mutations have also been associated with type II diabetes mellitus, an autosomal dominant disease of defective insulin secretion. A rat ortholog, Abcc8, exists; check the datasheet of any product for its validated reactivity.
Other ABCC subfamily transporters, including the related KATP regulatory subunit ABCC9 and multidrug resistance-associated proteins.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q09428; product specifications from Assay Genie datasheets.