PCK2
Function
Mitochondrial phosphoenolpyruvate carboxykinase that 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 (PubMed:28955899). Can play an active role in glyceroneogenesis and gluconeogenesis (PubMed:28955899).
Involvement in disease
Mitochondrial phosphoenolpyruvate carboxykinase deficiency
M-PEPCKD
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. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait.
None
The gene represented in this entry may be involved in disease pathogenesis.
Pathway
Carbohydrate biosynthesis; gluconeogenesis.
Sequence Similarities
Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
Tissue Specificity
Widely expressed.
Cellular localization
- Mitochondrion
Alternative names
PEPCK2, PCK2, PEPCK-M, mtPCK2