1wsr
From Proteopedia
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{{STRUCTURE_1wsr| PDB=1wsr | SCENE= }} | {{STRUCTURE_1wsr| PDB=1wsr | SCENE= }} | ||
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===Crystal Structure of Human T-protein of Glycine Cleavage System=== | ===Crystal Structure of Human T-protein of Glycine Cleavage System=== | ||
| + | {{ABSTRACT_PUBMED_16051266}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/GCST_HUMAN GCST_HUMAN]] Defects in AMT are a cause of non-ketotic hyperglycinemia (NKH) [MIM:[http://omim.org/entry/605899 605899]]; also known as glycine encephalopathy (GCE). NKH is an autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.<ref>PMID:8005589</ref><ref>PMID:9600239</ref><ref>PMID:9621520</ref><ref>PMID:10873393</ref><ref>PMID:11286506</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/GCST_HUMAN GCST_HUMAN]] The glycine cleavage system catalyzes the degradation of glycine. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:016051266</ref><references group="xtra"/> | + | <ref group="xtra">PMID:016051266</ref><references group="xtra"/><references/> |
[[Category: Aminomethyltransferase]] | [[Category: Aminomethyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
Revision as of 22:15, 24 March 2013
Contents |
Crystal Structure of Human T-protein of Glycine Cleavage System
Template:ABSTRACT PUBMED 16051266
Disease
[GCST_HUMAN] Defects in AMT are a cause of non-ketotic hyperglycinemia (NKH) [MIM:605899]; also known as glycine encephalopathy (GCE). NKH is an autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms.[1][2][3][4][5]
Function
[GCST_HUMAN] The glycine cleavage system catalyzes the degradation of glycine.
About this Structure
1wsr is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Okamura-Ikeda K, Hosaka H, Yoshimura M, Yamashita E, Toma S, Nakagawa A, Fujiwara K, Motokawa Y, Taniguchi H. Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia. J Mol Biol. 2005 Sep 2;351(5):1146-59. PMID:16051266 doi:http://dx.doi.org/10.1016/j.jmb.2005.06.056
- ↑ Nanao K, Okamura-Ikeda K, Motokawa Y, Danks DM, Baumgartner ER, Takada G, Hayasaka K. Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. Hum Genet. 1994 Jun;93(6):655-8. PMID:8005589
- ↑ Kure S, Mandel H, Rolland MO, Sakata Y, Shinka T, Drugan A, Boneh A, Tada K, Matsubara Y, Narisawa K. A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia. Hum Genet. 1998 Apr;102(4):430-4. PMID:9600239
- ↑ Kure S, Shinka T, Sakata Y, Osamu N, Takayanagi M, Tada K, Matsubara Y, Narisawa K. A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia. J Hum Genet. 1998;43(2):135-7. PMID:9621520 doi:10.1007/s100380050055
- ↑ Toone JR, Applegarth DA, Coulter-Mackie MB, James ER. Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Mol Genet Metab. 2000 Jun;70(2):116-21. PMID:10873393 doi:10.1006/mgme.2000.3000
- ↑ Toone JR, Applegarth DA, Coulter-Mackie MB, James ER. Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). Mol Genet Metab. 2001 Apr;72(4):322-5. PMID:11286506 doi:10.1006/mgme.2001.3158
