Disease-gene associations mined from literature

Literature associating PC and biotinidase deficiency

PC [ENSP00000377532]

Pyruvate carboxylase, mitochondrial; Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate.

Synonyms:  PC,  A0A024R5C5,  B4DN00,  E9PRE7,  E9PS68 ...

Linkouts:  STRING  Pharos  UniProt