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.

ABCC8
Identifiers
AliasesABCC8, ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2, ATP binding cassette subfamily C member 8, PNDM3
External IDsOMIM: 600509 MGI: 1352629 HomoloGene: 68048 GeneCards: ABCC8
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for ABCC8
Genomic location for ABCC8
Band11p15.1Start17,392,498 bp[1]
End17,476,879 bp[1]
RNA expression pattern
PBB GE ABCC8 210246 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000352
NM_001287174
NM_001351295
NM_001351296
NM_001351297

NM_011510
NM_001357538

RefSeq (protein)

NP_000343
NP_001274103
NP_001338224
NP_001338225
NP_001338226

n/a

Location (UCSC)Chr 11: 17.39 – 17.48 MbChr 7: 46.1 – 46.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. Alternative splicing of this gene has been observed; however, the transcript variants have not been fully described.[8]

See alsoEdit

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000006071 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040136 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "OrthoMaM phylogenetic marker: ABCC8 coding sequence". Archived from the original on 2015-09-24. Retrieved 2009-12-09.
  8. ^ "Entrez Gene: ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8".

External linksEdit

Further readingEdit

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