ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene.[5][6]ABCC8 orthologs[7] have been identified in all mammals for which complete genome data are available.
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 and deficiencies in this 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 (neonatal diabetes), an autosomal dominant disease of defective insulin secretion, and congenital hyperinsulinism.[8] Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described.[9]
^ abcGRCh38: Ensembl release 89: ENSG00000006071 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000040136 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, et al. (June 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nature Genetics. 7 (2): 185–188. doi:10.1038/ng0694-185. PMID 7920639. S2CID 8681602.
^Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, et al. (April 1995). "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy". Science. 268 (5209): 426–429. Bibcode:1995Sci...268..426T. doi:10.1126/science.7716548. PMID 7716548.
^"OrthoMaM phylogenetic marker: ABCC8 coding sequence". Archived from the original on 2015-09-24. Retrieved 2009-12-09.
^Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K (April 2013). "Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism". European Journal of Endocrinology. 168 (4): 557–564. doi:10.1530/EJE-12-0673. PMC 3599069. PMID 23345197.
^"Entrez Gene: ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8".
sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene. ABCC8 orthologs have been identified in all mammals for which complete genome...
Three forms of the sulfonylurea receptor are known, SUR1 encoded by the ABCC8 gene, and SUR2A and SUR2B, which are splice variants arising from a single...
in either ABCC8, which encodes the protein SUR1, or KCNJ11, which encodes the protein Kir6.2. In the Ashkenazi Jewish population, two ABCC8 founder mutations...
variant results in disease. This is the case for the KATP genes KCNJ11 and ABCC8, and paternally inherited 6q24 amplifications, any of which have a 50% chance...
et al. (May 2008). "A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes". EMBO Rep...
the regulation of those gene expressions. Only few genes (PARG6, KCNJ11-ABCC8, SLC30A8, and GCKR) have SNPs in the open reading frame (ORF). These SNPs...
diabetes of the young (MODY). It can be associated with GCK, KCNJ11, INS, and ABCC8. This results in congenital impairment of insulin release, although in the...
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