2idx: Difference between revisions
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{{STRUCTURE_2idx| PDB=2idx | SCENE= }} | {{STRUCTURE_2idx| PDB=2idx | SCENE= }} | ||
===Structure of Human ATP:Cobalamin adenosyltransferase bound to ATP.=== | ===Structure of Human ATP:Cobalamin adenosyltransferase bound to ATP.=== | ||
{{ABSTRACT_PUBMED_17176040}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/MMAB_HUMAN MMAB_HUMAN]] Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB) [MIM:[http://omim.org/entry/251110 251110]]; also known as methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive.<ref>PMID:12471062</ref><ref>PMID:12514191</ref><ref>PMID:15781192</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017176040</ref><references group="xtra"/> | <ref group="xtra">PMID:017176040</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hill, C P.]] | [[Category: Hill, C P.]] | ||
Revision as of 00:54, 25 March 2013
Structure of Human ATP:Cobalamin adenosyltransferase bound to ATP.Structure of Human ATP:Cobalamin adenosyltransferase bound to ATP.
Template:ABSTRACT PUBMED 17176040
DiseaseDisease
[MMAB_HUMAN] Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB) [MIM:251110]; also known as methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive.[1][2][3]
About this StructureAbout this Structure
2idx is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
ReferenceReference
- ↑ Schubert HL, Hill CP. Structure of ATP-bound human ATP:cobalamin adenosyltransferase. Biochemistry. 2006 Dec 26;45(51):15188-96. PMID:17176040 doi:http://dx.doi.org/10.1021/bi061396f
- ↑ Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet. 2002 Dec 15;11(26):3361-9. PMID:12471062
- ↑ Leal NA, Park SD, Kima PE, Bobik TA. Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. J Biol Chem. 2003 Mar 14;278(11):9227-34. Epub 2003 Jan 3. PMID:12514191 doi:10.1074/jbc.M212739200
- ↑ Martinez MA, Rincon A, Desviat LR, Merinero B, Ugarte M, Perez B. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Mol Genet Metab. 2005 Apr;84(4):317-25. Epub 2005 Jan 22. PMID:15781192 doi:S1096-7192(04)00307-5