1r74
From Proteopedia
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{{STRUCTURE_1r74| PDB=1r74 | SCENE= }} | {{STRUCTURE_1r74| PDB=1r74 | SCENE= }} | ||
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===Crystal Structure of Human Glycine N-Methyltransferase=== | ===Crystal Structure of Human Glycine N-Methyltransferase=== | ||
| + | {{ABSTRACT_PUBMED_15340920}} | ||
| - | + | ==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. | ||
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| + | ==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:015340920</ref><references group="xtra"/> | + | <ref group="xtra">PMID:015340920</ref><references group="xtra"/><references/> |
[[Category: Glycine N-methyltransferase]] | [[Category: Glycine N-methyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
Revision as of 21:25, 24 March 2013
Contents |
Crystal Structure of Human Glycine N-Methyltransferase
Template:ABSTRACT PUBMED 15340920
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
1r74 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- 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
- ↑ 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
