2ocp

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[[Image:2ocp.png|left|200px]]
 
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{{STRUCTURE_2ocp| PDB=2ocp | SCENE= }}
{{STRUCTURE_2ocp| PDB=2ocp | SCENE= }}
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===Crystal Structure of Human Deoxyguanosine Kinase===
===Crystal Structure of Human Deoxyguanosine Kinase===
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{{ABSTRACT_PUBMED_11427893}}
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{{ABSTRACT_PUBMED_11427893}}
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==Disease==
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[[http://www.uniprot.org/uniprot/DGUOK_HUMAN DGUOK_HUMAN]] Defects in DGUOK are the cause of mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:[http://omim.org/entry/251880 251880]]. A disorder characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion.<ref>PMID:12205643</ref><ref>PMID:15639197</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/DGUOK_HUMAN DGUOK_HUMAN]] Required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents.<ref>PMID:8706825</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:011427893</ref><references group="xtra"/>
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<ref group="xtra">PMID:011427893</ref><references group="xtra"/><references/>
[[Category: Deoxyguanosine kinase]]
[[Category: Deoxyguanosine kinase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 20:29, 24 March 2013

Template:STRUCTURE 2ocp

Contents

Crystal Structure of Human Deoxyguanosine Kinase

Template:ABSTRACT PUBMED 11427893

Disease

[DGUOK_HUMAN] Defects in DGUOK are the cause of mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880]. A disorder characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion.[1][2]

Function

[DGUOK_HUMAN] Required for the phosphorylation of several deoxyribonucleosides and certain nucleoside analogs widely employed as antiviral and chemotherapeutic agents.[3]

About this Structure

2ocp is a 8 chain structure with sequence from Homo sapiens. This structure supersedes the now removed PDB entry 1jag. Full crystallographic information is available from OCA.

Reference

  • Johansson K, Ramaswamy S, Ljungcrantz C, Knecht W, Piskur J, Munch-Petersen B, Eriksson S, Eklund H. Structural basis for substrate specificities of cellular deoxyribonucleoside kinases. Nat Struct Biol. 2001 Jul;8(7):616-20. PMID:11427893 doi:10.1038/89661
  1. ↑ Salviati L, Sacconi S, Mancuso M, Otaegui D, Camano P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol. 2002 Sep;52(3):311-7. PMID:12205643 doi:10.1002/ana.10284
  2. ↑ Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. Mol Genet Metab. 2005 Jan;84(1):75-82. PMID:15639197 doi:10.1016/j.ymgme.2004.09.005
  3. ↑ Wang L, Hellman U, Eriksson S. Cloning and expression of human mitochondrial deoxyguanosine kinase cDNA. FEBS Lett. 1996 Jul 15;390(1):39-43. PMID:8706825

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