2w2j | pdb_00002w2j
From Proteopedia
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
