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The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质最初命名是因为序列相似其它已知碳酸酐酶基因的CA相关的蛋白。然而,该基因产物缺乏碳酸酐酶活性(即,二氧化碳的可逆水合)。该基因产物将继续根据明确的序列同一性的碳酸酐酶基因家族的其他成员进行碳酸酐指定。在觇突变的小鼠小脑用神经缺损没有CA8基因转录的暗示此acatalytic形式中起重要作用。 [由RefSeq的,2008年7月提供]
CA8基因(以及对应的蛋白质)的细胞分布位置:
CA8基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 | 0.36 | 1 | 2 | CLINVAR_CTD_human_UNIPROT |
Dysequilibrium syndrome | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
Intellectual Disability | 0.12 | 1 | 0 | CTD_human |
Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Osteoporosis | 0.002367032 | 1 | 0 | GAD |
Ataxia | 0.000542884 | 2 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Cerebellar Ataxia | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Dilated | 0.000271442 | 1 | 0 | BeFree |
Kartagener Syndrome | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
Rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Paraneoplastic Cerebellar Degeneration | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Breast adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
Adenoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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