功能： disease:Defects in ABCC8 are a cause of leucine-induced hypoglycemia (LIH) [MIM:240800]; also called leucine-sensitive hypoglycemia of infancy. LIH is a rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.,disease:Defects in ABCC8 are a cause of permanent neonatal diabetes mellitus (PNDM) [MIM:606176]; also called permanent diabetes mellitus of infancy (PDMI). PNDM is a rare form of diabetes characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.,disease:Defects in ABCC8 are the cause of familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]; also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or hyperinsulinism. HHF1 is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive, often disorganized formation of new islets. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.,disease:Defects in ABCC8 are the cause of transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]. Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence.,disease:Defects in ABCC8 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2, in Northern European Caucasians.,function:Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.,similarity:Belongs to the ABC transporter family.,similarity:Belongs to the ABC transporter family. Conjugate transporter (TC 3.A.1.208) subfamily.,similarity:Contains 2 ABC transmembrane type-1 domains.,similarity:Contains 2 ABC transporter domains.,subunit:Associates with KCNJ11.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein .
组织表达： Brain,Foreskin,Pancreas,Pancreatic islet,
科研货号： PLA006343
ABCC8 Polyclonal Antibody
Catalog NoPLA006343
Product information
基因名称： ABCC8 HRINS SUR SUR1
蛋白名称： ATP-binding cassette sub-family C member 8 (Sulfonylurea receptor 1)
功能： disease:Defects in ABCC8 are a cause of leucine-induced hypoglycemia (LIH) [MIM:240800]; also called leucine-sensitive hypoglycemia of infancy. LIH is a rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.,disease:Defects in ABCC8 are a cause of permanent neonatal diabetes mellitus (PNDM) [MIM:606176]; also called permanent diabetes mellitus of infancy (PDMI). PNDM is a rare form of diabetes characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.,disease:Defects in ABCC8 are the cause of familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]; also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or hyperinsulinism. HHF1 is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive, often disorganized formation of new islets. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.,disease:Defects in ABCC8 are the cause of transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]. Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Transient neonatal diabetes remits early, with a possible relapse during adolescence.,disease:Defects in ABCC8 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2, in Northern European Caucasians.,function:Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release.,similarity:Belongs to the ABC transporter family.,similarity:Belongs to the ABC transporter family. Conjugate transporter (TC 3.A.1.208) subfamily.,similarity:Contains 2 ABC transmembrane type-1 domains.,similarity:Contains 2 ABC transporter domains.,subunit:Associates with KCNJ11.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein .
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