PC across dismech

PC (pyruvate carboxylase) is named by 1 disorder entry.

Normal function

ai-gene-review gives PC's core molecular functions as biotin binding; and pyruvate carboxylase activity, acting in gluconeogenesis; and oxaloacetate metabolic process, located in the mitochondrial matrix.

Causative record

The entry that names PC types it as causative: Pyruvate Carboxylase Deficiency Disease, with germline variants. ClinGen rates PC definitive for pyruvate carboxylase deficiency disease, the entry's own disease.

Mechanism

PC is placed on 3 pathophysiology nodes, from the proximal lesion Pyruvate Carboxylase Deficiency to its two immediate consequences, Impaired Gluconeogenesis and Impaired Anaplerosis. The GO processes on those nodes are gluconeogenesis; pyruvate metabolic process; and tricarboxylic acid cycle.

Where the layers agree

The KB and ai-gene-review share gluconeogenesis by exact GO identifier. The KB's anaplerosis node is annotated with the tricarboxylic acid cycle, while ai-gene-review describes the same anaplerotic role through oxaloacetate production; the two describe one function at different points of the pathway, so they do not match by identifier.