2azt: Difference between revisions
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{{STRUCTURE_2azt| PDB=2azt | SCENE= }} | {{STRUCTURE_2azt| PDB=2azt | SCENE= }} | ||
===Crystal structure of H176N mutant of human Glycine N-Methyltransferase=== | |||
{{ABSTRACT_PUBMED_17660255}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/GNMT_HUMAN GNMT_HUMAN]] Defects in GNMT are the cause of glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:[http://omim.org/entry/606664 606664]]; also known as hypermethioninemia. The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GNMT_HUMAN GNMT_HUMAN]] Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine.<ref>PMID:15340920</ref><ref>PMID:17660255</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017660255</ref><references group="xtra"/> | <ref group="xtra">PMID:017660255</ref><references group="xtra"/><references/> | ||
[[Category: Glycine N-methyltransferase]] | [[Category: Glycine N-methyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
Revision as of 17:04, 24 March 2013
Crystal structure of H176N mutant of human Glycine N-Methyltransferase
Template:ABSTRACT PUBMED 17660255
Disease
[GNMT_HUMAN] Defects in GNMT are the cause of glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]; also known as hypermethioninemia. The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases.
Function
[GNMT_HUMAN] Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine.[1][2]
About this Structure
2azt is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Luka Z, Pakhomova S, Luka Y, Newcomer ME, Wagner C. Destabilization of human glycine N-methyltransferase by H176N mutation. Protein Sci. 2007 Sep;16(9):1957-64. Epub 2007 Jul 27. PMID:17660255 doi:10.1110/ps.072921507
- ↑ Pakhomova S, Luka Z, Grohmann S, Wagner C, Newcomer ME. Glycine N-methyltransferases: a comparison of the crystal structures and kinetic properties of recombinant human, mouse and rat enzymes. Proteins. 2004 Nov 1;57(2):331-7. PMID:15340920 doi:10.1002/prot.20209
- ↑ Luka Z, Pakhomova S, Luka Y, Newcomer ME, Wagner C. Destabilization of human glycine N-methyltransferase by H176N mutation. Protein Sci. 2007 Sep;16(9):1957-64. Epub 2007 Jul 27. PMID:17660255 doi:10.1110/ps.072921507
