2w2j
From Proteopedia
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{{STRUCTURE_2w2j| PDB=2w2j | SCENE= }} | {{STRUCTURE_2w2j| PDB=2w2j | SCENE= }} | ||
| + | ===Crystal structure of the human carbonic anhydrase related protein VIII=== | ||
| - | === | + | ==Disease== |
| + | [[http://www.uniprot.org/uniprot/CAH8_HUMAN CAH8_HUMAN]] Defects in CA8 are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:[http://omim.org/entry/613227 613227]]. CMARQ3 is a congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mild mental retardation. | ||
| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/CAH8_HUMAN CAH8_HUMAN]] Does not have a carbonic anhydrase catalytic activity. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:019360879</ref><references group="xtra"/> | + | <ref group="xtra">PMID:019360879</ref><references group="xtra"/><references/> |
[[Category: Carbonate dehydratase]] | [[Category: Carbonate dehydratase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
Revision as of 19:38, 24 March 2013
Contents |
Crystal structure of the human carbonic anhydrase related protein VIII
Disease
[CAH8_HUMAN] Defects in CA8 are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]. CMARQ3 is a congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mild mental retardation.
Function
[CAH8_HUMAN] Does not have a carbonic anhydrase catalytic activity.
About this Structure
2w2j is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Picaud SS, Muniz JR, Kramm A, Pilka ES, Kochan G, Oppermann U, Yue WW. Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing. Proteins. 2009 Aug 1;76(2):507-11. PMID:19360879 doi:10.1002/prot.22411
