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ABCC8 a multi-pass membrane protein subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release. Associates with Kir6.2. Defects in ABCC8 are a cause of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) [MIM:601820, 256450], and may contribute to non-insulin-dependent diabetes mellitus (NIDDM) in Northern European Caucasians. Two alternatively spliced human isoforms have been described. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ABC family
Chromosomal Location of Human Ortholog: 11p15.1
Cellular Component: ATP-sensitive potassium channel complex; plasma membrane; sarcolemma; voltage-gated potassium channel complex
Molecular Function: anion transmembrane-transporting ATPase activity; ATP-activated inward rectifier potassium channel activity; ATPase activity, coupled to transmembrane movement of substances; potassium channel activity
Biological Process: potassium ion transport; regulation of insulin secretion; response to drug; transmembrane transport
Disease: Diabetes Mellitus, Noninsulin-dependent; Diabetes Mellitus, Permanent Neonatal; Diabetes Mellitus, Transient Neonatal, 2; Hyperinsulinemic Hypoglycemia, Familial, 1; Hypoglycemia, Leucine-induced
Reference #:  Q09428 (UniProtKB)
Alt. Names/Synonyms: ABC36; ABCC8; ATP-binding cassette sub-family C member 8; ATP-binding cassette transporter sub-family C member 8; ATP-binding cassette, sub-family C (CFTR/MRP), member 8; HHF1; HI; HRINS; MRP8; PHHI; sulfonylurea receptor (hyperinsulinemia); Sulfonylurea receptor 1; SUR; SUR1; TNDM2
Gene Symbols: ABCC8
Molecular weight: 176,992 Da
Basal Isoelectric point: 7.99  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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