ABCC8

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ATP-binding cassette, sub-family C (CFTR/MRP), member 8
Identifiers
Symbols ABCC8 ; ABC36; HHF1; HI; HRINS; MRP8; PHHI; SUR; SUR1; SUR1delta2; TNDM2
External IDs OMIM600509 MGI1352629 HomoloGene68048 ChEMBL: 2071 GeneCards: ABCC8 Gene
RNA expression pattern
PBB GE ABCC8 210246 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6833 20927
Ensembl ENSG00000006071 ENSMUSG00000040136
UniProt Q09428 B2RUS7
RefSeq (mRNA) NM_000352 NM_011510
RefSeq (protein) NP_000343 NP_035640
Location (UCSC) Chr 11:
17.41 – 17.5 Mb
Chr 7:
46.1 – 46.18 Mb
PubMed search [1] [2]

ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene.[1][2] ABCC8 orthologs [3] 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, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described.[4]

See also[edit]

References[edit]

  1. ^ Glaser B, Chiu KC, Anker R, Nestorowicz A, Landau H, Ben-Bassat H, Shlomai Z, Kaiser N, Thornton PS, Stanley CA, et al. (Nov 1994). "Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene". Nat Genet 7 (2): 185–8. doi:10.1038/ng0694-185. PMID 7920639. 
  2. ^ Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J (May 1995). "Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy". Science 268 (5209): 426–9. doi:10.1126/science.7716548. PMID 7716548. 
  3. ^ "OrthoMaM phylogenetic marker: ABCC8 coding sequence". 
  4. ^ "Entrez Gene: ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8". 

External links[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.