" /> PC wt Allele - CISMeF





Preferred Label : PC wt Allele;

NCIt synonyms : PCB; Pyruvate Carboxylase wt Allele;

NCIt definition : Human PC wild-type allele is located in the vicinity of 11q13.2 and is approximately 110 kb in length. This allele, which encodes pyruvate carboxylase, mitochondrial protein, plays a role in gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Loss of function mutations in the gene are associated with pyruvate carboxylase deficiency.;

NCI Metathesaurus CUI : CL1798935;

GenBank Accession Number : U04641;

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31/07/2025


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