3bg9: Difference between revisions
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{{STRUCTURE_3bg9| PDB=3bg9 | SCENE= }} | {{STRUCTURE_3bg9| PDB=3bg9 | SCENE= }} | ||
===Crystal Structure of Human Pyruvate Carboxylase (missing the biotin carboxylase domain at the N-terminus) F1077A Mutant=== | |||
{{ABSTRACT_PUBMED_18297087}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PYC_HUMAN PYC_HUMAN]] Defects in PC are the cause of pyruvate carboxylase deficiency (PC deficiency) [MIM:[http://omim.org/entry/266150 266150]]. PC deficiency leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PYC_HUMAN PYC_HUMAN]] 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. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018297087</ref><references group="xtra"/> | <ref group="xtra">PMID:018297087</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Pyruvate carboxylase]] | [[Category: Pyruvate carboxylase]] | ||
