Pyruvate carboxylase
From Proteopedia
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Pyruvate carboxylase (PC) encoded by the gene PC is an enzyme (EC 6.4.1.1) of the ligase class that catalyzes (depending on the species) the physiologically irreversible carboxylation of pyruvate to form oxaloacetate (OAA). PC is a biotin-containing enzyme. PC is a tetrameric protein containing biotin carboxylase, carboxyltransferase, allosteric effector (acetyl-CoA) and biotin carboxyl carrier domains. PC is regulated by acetyl-CoA and Asp. The biotin moiety transfers the carboxyl group from the biotin carboxylase active site to the carboxyltransferase active site<ref>PMID:18613815</ref> . | Pyruvate carboxylase (PC) encoded by the gene PC is an enzyme (EC 6.4.1.1) of the ligase class that catalyzes (depending on the species) the physiologically irreversible carboxylation of pyruvate to form oxaloacetate (OAA). PC is a biotin-containing enzyme. PC is a tetrameric protein containing biotin carboxylase, carboxyltransferase, allosteric effector (acetyl-CoA) and biotin carboxyl carrier domains. PC is regulated by acetyl-CoA and Asp. The biotin moiety transfers the carboxyl group from the biotin carboxylase active site to the carboxyltransferase active site<ref>PMID:18613815</ref> . | ||
| + | ==Disease== | ||
| + | Mutations in the PC gene cause 3 types of clinical spectra. Type A and B are neonatal forms causing early death; type C causes mild intellectual delay<ref>PMID:30870574</ref> . | ||
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| + | ==Structural highlights== | ||
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| + | ==3D structures of pyruvate carboxylase== | ||
| + | [[Pyruvate carboxylase 3D structures]] | ||
</StructureSection> | </StructureSection> | ||
== References == | == References == | ||
<references/> | <references/> | ||
| + | [[Category:Topic Page]] | ||
Revision as of 08:11, 11 January 2023
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References
- ↑ Jitrapakdee S, St Maurice M, Rayment I, Cleland WW, Wallace JC, Attwood PV. Structure, mechanism and regulation of pyruvate carboxylase. Biochem J. 2008 Aug 1;413(3):369-87. doi: 10.1042/BJ20080709. PMID:18613815 doi:http://dx.doi.org/10.1042/BJ20080709
- ↑ Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot BL, Miller K, Vockley J, Sondheimer N, Ganetzky R, Freisinger P. Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation. Hum Mutat. 2019 Jun;40(6):816-827. doi: 10.1002/humu.23742. Epub 2019 Apr 13. PMID:30870574 doi:http://dx.doi.org/10.1002/humu.23742
