Pyruvate carboxylase: 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>. | ||
The <scene name='93/939263/Cv/4'>ATP moiety active site is in the BC domain and contains 2 Mg++ ions</scene>. | |||
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== | ||
