NP_004554.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
phosphoenolpyruvate carboxykinase
NCBI Official Synonym Full Names
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
NCBI Protein Information
phosphoenolpyruvate carboxykinase [GTP], mitochondrial; phosphoenolpyruvate carboxykinase [GTP], mitochondrial; PEP carboxykinase; phosphopyruvate carboxylase; phosphoenolpyruvate carboxylase
UniProt Protein Name
Phosphoenolpyruvate carboxykinase [GTP], mitochondrial
UniProt Synonym Protein Names
Phosphoenolpyruvate carboxylase
UniProt Synonym Gene Names
UniProt Entry Name
PCKGM_HUMAN
NCBI Summary for PCK2
This gene encodes a member of the phosphoenolpyruvate carboxykinase (GTP) family. The protein is a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of GTP. A cytosolic form encoded by a different gene has also been characterized and is the key enzyme of gluconeogenesis in the liver. The encoded protein may serve a similar function, although it is constitutively expressed and not modulated by hormones such as glucagon and insulin that regulate the cytosolic form. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
UniProt Comments for PCK2
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
By similarity.
Catalytic activity: GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO2.
Cofactor: Manganese
By similarity.Binds 1 manganese ion per subunit
By similarity.
Pathway: Carbohydrate biosynthesis; gluconeogenesis.
Subunit structure: Monomer.
Subcellular location: Mitochondrion.
Involvement in disease: Mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) [MIM:261650]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry.
Miscellaneous: In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one.
Sequence similarities: Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
Sequence caution: The sequence CAD62600.1 differs from that shown. Reason: Erroneous initiation.
Research Articles on PCK2
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Products associated with PCK2 substrate
Pathways associated with PCK2 substrate
Diseases associated with PCK2 substrate
Organs/Tissues associated with PCK2 substrate
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