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ABCC8 / SUR1
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
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 yet been fully described.
| Gene Name: | ATP-binding cassette, sub-family C (CFTR/MRP), member 8 |
| Family/Subfamily: | Transporter , ATP-binding cassette - ABCC/MRP |
| Synonyms: | ABCC8, ABC36, HI, PHHI, Sulfonylurea receptor, SUR, Sulfonylurea receptor 1, MRP8, SUR1delta2, HHF1, HRINS, SUR1, TNDM2 |
| Target Sequences: | NM_000352 NP_000343.2 Q09428 |
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