| Gene Symbol | ABCC8 |
| Entrez Gene ID | 6833 |
| Full Name | ATP binding cassette subfamily C member 8 |
| Synonyms | ABC36,HHF1,HI,HRINS,MRP8,PHHI,SUR,SUR1,SUR1delta2,TNDM2 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. |
| Disorder MIM: | |
| Disorder Html: | Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3); Hypoglycemia of infancy, leucine-sensitive, 240800 (3); Diabetes mellitus, transient neonatal 2, 610374 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3); Diabetes mellitus, permanent neonatal, 606176 (3) |
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