rs11552146

This variant is located in the PCK1 gene.

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ClinVar annotation

Conflicting Classifications

4 submitters1 publication

Phosphoenolpyruvate carboxykinase deficiency, cytosolic; not provided; Inborn genetic diseases; PCK1-related disorder

About PCK1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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