NP_001274103.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
5,468 Da
NCBI Official Full Name
ATP-binding cassette sub-family C member 8 isoform 1
NCBI Official Synonym Full Names
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
NCBI Official Synonym Symbols
HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; TNDM2; SUR1delta2 [Similar Products]
NCBI Protein Information
ATP-binding cassette sub-family C member 8; ATP-binding cassette transporter sub-family C member 8; sulfonylurea receptor (hyperinsulinemia); sulfonylurea receptor 1
UniProt Protein Name
ATP-binding cassette sub-family C member 8
UniProt Synonym Protein Names
Sulfonylurea receptor 1
UniProt Synonym Gene Names
UniProt Entry Name
ABCC8_HUMAN
NCBI Summary for ABCC8
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]
UniProt Comments for ABCC8
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.
Protein type: Transporter; Membrane protein, integral; Membrane protein, multi-pass; Transporter, ABC family
Chromosomal Location of Human Ortholog: 11p15.1
Cellular Component: voltage-gated potassium channel complex; plasma membrane
Molecular Function: ATPase activity, coupled to transmembrane movement of substances; sulfonylurea receptor activity; potassium ion transmembrane transporter activity; ATP binding
Biological Process: synaptic transmission; carbohydrate metabolic process; energy reserve metabolic process; signal transduction; regulation of insulin secretion; transmembrane transport; potassium ion transport
Disease: Hyperinsulinemic Hypoglycemia, Familial, 1; Diabetes Mellitus, Transient Neonatal, 2; Diabetes Mellitus, Permanent Neonatal; Hypoglycemia, Leucine-induced; Diabetes Mellitus, Noninsulin-dependent
Research Articles on ABCC8
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Products associated with anti-ABCC8 antibody
Pathways associated with anti-ABCC8 antibody
Diseases associated with anti-ABCC8 antibody
Organs/Tissues associated with anti-ABCC8 antibody
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