rs140235265
This variant is located in the PCK1 gene.
▶ClinVar annotation
Phosphoenolpyruvate carboxykinase deficiency, cytosolic; not provided; Inborn genetic diseases
View on ClinVar →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]
View all PCK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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