抗人 CA8 抗体对
01AB02944
Carbonic anhydrase 8 (CA8) is an acatalytic member of the alpha-carbonic anhydrase family that lacks traditional CO2 hydration activity due to the replacement of a critical zinc-binding histidine with arginine. Instead, CA8 functions as a regulatory protein, primarily expressed in cerebellar Purkinje cells, where it modulates inositol 1,4,5-trisphosphate receptor type 1 (ITPR1)-dependent calcium signaling. This modulation is essential for proper neuronal development and motor coordination. Pathogenically, loss-of-function mutations in CA8 are a well-established cause of an autosomal recessive cerebellar ataxia syndrome, also known as CAMRQ3, which is characterized by early-onset ataxia, impaired intellectual development, and abnormal quadrupedal locomotion.
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技术参数
- 靶点基因名
- CA8
- 基因别名
- CALS
- 蛋白别名
- carbonic anhydrase 8; CA8
- UniProt
- P35219
- 物种
- Human
产品详情
- 靶点名称
- CA8
- 蛋白名称
- carbonic anhydrase 8
- 蛋白别名
- Carbonic anhydrase-related protein; CARP; Carbonic anhydrase VIII; CA-VIII
- 靶点基因名
- CA8
- 基因别名
- CALS
- UniProt
- P35219
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Carbonic anhydrase 8 (CA8) is an acatalytic member of the alpha-carbonic anhydrase family that lacks traditional CO2 hydration activity due to the replacement of a critical zinc-binding histidine with arginine. Instead, CA8 functions as a regulatory protein, primarily expressed in cerebellar Purkinje cells, where it modulates inositol 1,4,5-trisphosphate receptor type 1 (ITPR1)-dependent calcium signaling. This modulation is essential for proper neuronal development and motor coordination. Pathogenically, loss-of-function mutations in CA8 are a well-established cause of an autosomal recessive cerebellar ataxia syndrome, also known as CAMRQ3, which is characterized by early-onset ataxia, impaired intellectual development, and abnormal quadrupedal locomotion.