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Cat. No.: DPP-001195
| Product Overview | |
|---|---|
| Species | Human |
| Expression System | Wheat germ |
| Format | Liquid |
| Purity | ≥ 90% by SDS-PAGE |
| Nature | Recombinant |
| Target Information | |
|---|---|
| Gene Name | ABCC8 |
| UniProt No. | Q09428 |
| Gene ID | 6833 |
| Molecular Weight | 37 kDa including tags |
| Alternative Names | ABC36; Abcc8; ABCC8_HUMAN; ATP binding cassette sub family C (CFTR/MRP) member 8; ATP binding cassette transporter sub family C member 8 (1); ATP-binding cassette sub-family C member 8; HHF1; HI; HRINS; MRP8; PHHI; Sulfonylurea receptor (hyperinsulinemia); Sulfonylurea receptor 1; SUR; SUR1; SUR1delta2; TNDM2 |
| Function | Putative subunit of the beta-cell ATP-sensitive potassium channel (KATP). Regulator of ATP-sensitive K(+) channels and insulin release. |
| Involvement In Disease | Defects in ABCC8 are a cause of leucine-induced hypoglycemia (LIH); also known as 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.Defects in ABCC8 are the cause of familial hyperinsulinemic hypoglycemia type 1 (HHF1); also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or congenital hyperinsulinism. HHF 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.Defects in ABCC8 are a cause of diabetes mellitus permanent neonatal (PNDM). PNDM is a rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.Defects in ABCC8 are the cause of transient neonatal diabetes mellitus type 2 (TNDM2). 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. |
| Cellular Localization | Membrane. |
| Protein Length | Protein fragment |
| Sequence | SEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLT GPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTM,Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. Contains 2 ABC transmembrane type-1 domains. Contains 2 ABC transporter domains. |
| Shipping & Storage | |
|---|---|
| Shipping | Shipped on dry ice. |
| Storage | Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle. |
Ace Therapeutics has a team of wellknown experts in the field of endocrine and metabolic research, aiming to provide innovative preclinical contract research solutions to cope with diabetes and its complications. We provide customized solutions and technical support, enabling the transformation of promising concepts into innovative treatments, thus accelerating the drug development process of diabetes.
