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Cat. No.: DPP-001223
| Product Overview | |
|---|---|
| Species | Human |
| Expression System | Wheat germ |
| Format | Liquid |
| Purity | ≥97% by SDS-PAGE |
| Nature | Recombinant |
| Target Information | |
|---|---|
| Gene Name | PCK2 |
| UniProt No. | Q16822 |
| Gene ID | 5106 |
| Molecular Weight | 96 kDa |
| Alternative Names | EC 4.1.1.32; GTP mitochondrial precursor; HGNC:8725; mitochondrial; Mitochondrial phosphoenolpyruvate carboxykinase 2; OTTHUMP00000164700; PCK2; PCKGM_HUMAN; PE; PEP carboxykinase; PEPCK; PEPCK deficiency mitochondrial; PEPCK M; PEPCK-M; PEPCK2; Phosphoenolpyruvate carboxykinase [GTP]; Phosphoenolpyruvate carboxykinase 2 (mitochondrial); Phosphoenolpyruvate carboxykinase 2 mitochondrial; Phosphoenolpyruvate carboxylase; Phosphopyruvate carboxylase |
| Function | Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle. |
| Involvement In Disease | Defects in PCK2 are the cause of mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD). A metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autoposy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. |
| Cellular Localization | Mitochondrion. |
| Protein Length | Full length protein |
| Sequence | MAALYRPGLRLNWHGLSPLGWPSCRSIQTLRVLSGDLGQLPTGIRDFVEH SARLCQPEGIHICDGTEAENTATLTLLEQQGLIRKLPKYNNCWLARTDPK DVARVESKTVIVTPSQRDTVPLPPGGARGQLGNWMSPADFQRAVDERFPG CMQGRTMYVLPFSMGPVGSPLSRIGVQLTDSAYVVASMRIMTRLGTPVLQ ALGDGDFVKCLHSVGQPLTGQGEPVSQWPCNPEKTLIGHVPDQREIISFG SGYGGNSLLGKKCFALRIASRLARDEGWLAEHMLILGITSPAGKKRYVAA AFPSACGKTNLAMMRPALPGWKVECVGDDIAWMRFDSEGRLRAINPENGF FGVAPGTSATTNPNAMATIQSNTIFTNVAETSDGGVYWEGIDQPLPPGVT VTSWLGKPWKPGDKEPCAHPNSRFCAPARQCPIMDPAWEAPEGVPIDAII FGGRRPKGVPLVYEAFNWRHGVFVGSAMRSESTAAAEHKGKIIMHDPFAM RPFFGYNFGHYLEHWLSMEGRKGAQLPRIFHVNWFRRDEAGHFLWPGFGE NARVLDWICRRLEGEDSARETPIGLVPKEGALDLSGLRAIDTTQLFSLPK DFWEQEVRDIRSYLTEQVNQDLPKEVLAELEALERRVHKM,Belongs to the phosphoenolpyruvate carboxykinase [GTP] family. |
| 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.
