RGD Reference Report - Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. - Rat Genome Database

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Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

Authors: Gloyn, AL  Siddiqui, J  Ellard, S 
Citation: Gloyn AL, etal., Hum Mutat. 2006 Mar;27(3):220-31.
RGD ID: 1625279
Pubmed: PMID:16416420   (View Abstract at PubMed)
DOI: DOI:10.1002/humu.20292   (Journal Full-text)

The beta-cell ATP-sensitive potassium channel is a key component of stimulus-secretion coupling in the pancreatic beta-cell. The channel couples metabolism to membrane electrical events, bringing about insulin secretion. Given the critical role of this channel in glucose homeostasis, it is not surprising that mutations in the genes encoding for the two essential subunits of the channel can result in both hypo- and hyperglycemia. The channel consists of four subunits of the inwardly rectifying potassium channel Kir6.2 and four subunits of the sulfonylurea receptor 1. It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinemia (HI) of infancy; however, heterozygous activating mutations in KCNJ11 that result in the opposite phenotype of diabetes have recently been described. This review focuses on reported mutations in both genes, the spectrum of phenotypes, and the implications for treatment when patients are diagnosed with mutations in these genes.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Objects Annotated

Genes (Rattus norvegicus)
Abcc8  (ATP binding cassette subfamily C member 8)
Kcnj11  (potassium inwardly-rectifying channel, subfamily J, member 11)

Genes (Mus musculus)
Abcc8  (ATP-binding cassette, sub-family C member 8)
Kcnj11  (potassium inwardly rectifying channel, subfamily J, member 11)

Genes (Homo sapiens)
ABCC8  (ATP binding cassette subfamily C member 8)
KCNJ11  (potassium inwardly rectifying channel subfamily J member 11)


Additional Information