Recombinant fragment, corresponding to amino acids 1 - 255 of human PCK2 (AAH01454) with a 26 kDa tag
A-431 cell lysate; immunogen
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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.
Carbohydrate biosynthesis; gluconeogenesis.
Defects in PCK2 are the cause of mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) [MIM:261650]. 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.
Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
Phosphorylated upon DNA damage, probably by ATM or ATR.
Leithner K et al. PCK2 activation mediates an adaptive response to glucose depletion in lung cancer. OncogeneN/A:N/A (2014).
Read more (PubMed: 24632615) »
Martin SA et al. Parallel high-throughput RNA interference screens identify PINK1 as a potential therapeutic target for the treatment of DNA mismatch repair-deficient cancers. Cancer Res71:1836-48 (2011).
Read more (PubMed: 21242281) »