Pyruvate carboxylase
From Proteopedia
(Difference between revisions)
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==Disease== | ==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> . Deregulation of PC expression is associated with type 2 diabetics and tumorgenesis in several cancers<ref>PMID:29362846</ref> . | + | 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>. Deregulation of PC expression is associated with type 2 diabetics and tumorgenesis in several cancers<ref>PMID:29362846</ref> . |
==Structural highlights== | ==Structural highlights== | ||
| - | The 3D structure of PC shows its <scene name='93/939263/Cv/3'>4 domains: BC, CT, allosteric effector and BCCP</scene>. The <scene name='93/939263/Cv/4'>ATP moiety active site is in the BC domain and contains 2 Mg++ ions</scene>. The effector CoA is bound to the BC domain and the allosteric effector domain<ref>PMID:17717183</ref>. | + | The 3D structure of PC shows its <scene name='93/939263/Cv/3'>4 domains: BC, CT, allosteric effector and BCCP</scene>. |
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| + | The <scene name='93/939263/Cv/4'>ATP moiety active site is in the BC domain and contains 2 Mg++ ions</scene>. | ||
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| + | The <scene name='93/939263/Cv/5'>effector CoA is bound to the BC domain and the allosteric effector domain</scene><ref>PMID:17717183</ref>. | ||
==3D structures of pyruvate carboxylase== | ==3D structures of pyruvate carboxylase== | ||
Revision as of 11:50, 23 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
- ↑ Lao-On U, Attwood PV, Jitrapakdee S. Roles of pyruvate carboxylase in human diseases: from diabetes to cancers and infection. J Mol Med (Berl). 2018 Apr;96(3-4):237-247. doi: 10.1007/s00109-018-1622-0. Epub , 2018 Jan 23. PMID:29362846 doi:http://dx.doi.org/10.1007/s00109-018-1622-0
- ↑ St Maurice M, Reinhardt L, Surinya KH, Attwood PV, Wallace JC, Cleland WW, Rayment I. Domain architecture of pyruvate carboxylase, a biotin-dependent multifunctional enzyme. Science. 2007 Aug 24;317(5841):1076-9. PMID:17717183 doi:317/5841/1076
