抗人 CA12 抗体对
01AB00648
Carbonic anhydrase 12 (CA12) is an enzyme encoded by the CA12 gene in humans. It belongs to the carbonic anhydrase family, which catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons, playing crucial roles in maintaining cellular pH and various biological processes. CA12 is primarily expressed in tissues such as the kidneys, colon, and pancreas, and it is involved in regulating salt transport by controlling cellular pH. Mutations in the CA12 gene can lead to isolated hyperchlorhidrosis, a condition characterized by excessive sodium chloride loss through sweating, resulting in episodic hyponatremic dehydration. Specifically, the Glu143Lys (E143K) mutation reduces the enzyme's activity and its ability to regulate pH and salt transport in sweat glands. Other tissues are less affected due to the presence of other compensatory carbonic anhydrases.
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技术参数
- 靶点基因名
- CA12
- 蛋白别名
- carbonic anhydrase 12; CA12
- UniProt
- O43570
- 物种
- Human
产品详情
- 靶点名称
- CA12
- 蛋白名称
- carbonic anhydrase 12
- 蛋白别名
- Carbonic anhydrase 12; Carbonate dehydratase XII; Carbonic anhydrase XII; CA-XII; Tumor antigen HOM-RCC-3.1.3
- 靶点基因名
- CA12
- UniProt
- O43570
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Carbonic anhydrase 12 (CA12) is an enzyme encoded by the CA12 gene in humans. It belongs to the carbonic anhydrase family, which catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons, playing crucial roles in maintaining cellular pH and various biological processes. CA12 is primarily expressed in tissues such as the kidneys, colon, and pancreas, and it is involved in regulating salt transport by controlling cellular pH. Mutations in the CA12 gene can lead to isolated hyperchlorhidrosis, a condition characterized by excessive sodium chloride loss through sweating, resulting in episodic hyponatremic dehydration. Specifically, the Glu143Lys (E143K) mutation reduces the enzyme's activity and its ability to regulate pH and salt transport in sweat glands. Other tissues are less affected due to the presence of other compensatory carbonic anhydrases.