人 PTPN23 抗体对
01AB02878
Protein tyrosine phosphatase non-receptor type 23 (PTPN23) is a large cytosolic phosphatase that localizes to endosomes and regulates endocytic trafficking. It interacts with the ESCRT machinery to sort ubiquitinated cargoes into multivesicular bodies and negatively regulates Ras-mediated mitogenic signaling. PTPN23 functions as a tumor suppressor and is essential for ciliogenesis and adherens junction organization. Biallelic loss-of-function variants cause a severe autosomal recessive neurodevelopmental disorder characterized by global developmental delay, structural brain anomalies, and hypotonia. Additionally, PTPN23 is required for cardiac T-tubule patterning, with reduced expression linked to dilated cardiomyopathy.
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技术参数
- 靶点基因名
- PTPN23
- 基因别名
- KIAA1471
- 蛋白别名
- protein tyrosine phosphatase non-receptor type 23; PTPN23
- UniProt
- Q9H3S7
- 物种
- Human
产品详情
- 靶点名称
- PTPN23
- 蛋白名称
- protein tyrosine phosphatase non-receptor type 23
- 蛋白别名
- Tyrosine-protein phosphatase non-receptor type 23; His domain-containing protein tyrosine phosphatase; HD-PTP; Protein tyrosine phosphatase TD14; PTP-TD14
- 靶点基因名
- PTPN23
- 基因别名
- KIAA1471
- UniProt
- Q9H3S7
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Protein tyrosine phosphatase non-receptor type 23 (PTPN23) is a large cytosolic phosphatase that localizes to endosomes and regulates endocytic trafficking. It interacts with the ESCRT machinery to sort ubiquitinated cargoes into multivesicular bodies and negatively regulates Ras-mediated mitogenic signaling. PTPN23 functions as a tumor suppressor and is essential for ciliogenesis and adherens junction organization. Biallelic loss-of-function variants cause a severe autosomal recessive neurodevelopmental disorder characterized by global developmental delay, structural brain anomalies, and hypotonia. Additionally, PTPN23 is required for cardiac T-tubule patterning, with reduced expression linked to dilated cardiomyopathy.