PCK1 gene

phosphoenolpyruvate carboxykinase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]

From UniProt:

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.

From NCBI Gene:

  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic

From UniProt:

Cytosolic phosphoenolpyruvate carboxykinase deficiency (C-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. [MIM:261680]

Cytogenetic Location: 20q13.31, which is the long (q) arm of chromosome 20 at position 13.31

Molecular Location: base pairs 57,561,081 to 57,566,461 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q13.31, which is the long (q) arm of chromosome 20 at position 13.31
  • PEPCK-C
  • PEPCK1
  • PEPCKC