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Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
[中文简述(自动翻译):]  碳酸酐酶(CA)的是一个大家族催化二氧化碳可逆的水化锌金属酶。他们参与多种生物过程,包括呼吸,钙化,酸碱平衡,骨吸收,和房水的形成,脑脊髓液,唾液和胃酸。这些数字表明组织分布,并在其亚细胞定位广泛的多样性。这CA1基因是密切相关的8染色体上它编码是在红细胞的最高水平发现细胞质蛋白CA2和CA3基因。该基因的等位基因变体已在某些人群中进行了描述。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年5月提供]
CA1基因(以及对应的蛋白质)的细胞分布位置:
CA1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Adenocarcinoma | 0.12 | 1 | 0 | CTD_human |
| Pneumoconiosis | 0.12 | 1 | 0 | CTD_human |
| Stomach Neoplasms | 0.12 | 2 | 0 | CTD_human |
| Squamous cell carcinoma of esophagus | 0.12 | 1 | 0 | CTD_human |
| Kidney Diseases | 0.00272435 | 1 | 0 | LHGDN |
| Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Rectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Ulcerative Colitis | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Hyperthyroidism | 0.000271442 | 1 | 0 | BeFree |
| Obstructive chronic bronchitis with acute exacerbation | 0.000271442 | 1 | 0 | BeFree |
| Peroxisomal Disorders | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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