人 NPHP1 抗体对
01AB02750
Nephrocystin 1 (NPHP1) is a ciliary and cell-junction protein characterized by SH3-containing interaction domains that facilitate the regulation of epithelial polarity, cell division, and cell-matrix adhesion. It localizes to the primary cilium transition zone and various actin- and microtubule-based structures, where it forms protein complexes essential for ciliary trafficking and structural organization. In the kidney and retina, NPHP1 is vital for maintaining tubular and photoreceptor integrity. Pathogenic loss-of-function variants or homozygous deletions in NPHP1 are the primary cause of autosomal recessive juvenile nephronophthisis, a leading genetic cause of pediatric end-stage renal disease. Additionally, defects in this protein are associated with syndromic ciliopathies such as Senior-Løken syndrome and Joubert syndrome.
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技术参数
- 靶点基因名
- NPHP1
- 基因别名
- NPH1
- 蛋白别名
- nephrocystin 1; NPHP1
- UniProt
- O15259
- 物种
- Human
产品详情
- 靶点名称
- NPHP1
- 蛋白名称
- nephrocystin 1
- 蛋白别名
- Nephrocystin-1; Juvenile nephronophthisis 1 protein
- 靶点基因名
- NPHP1
- 基因别名
- NPH1
- UniProt
- O15259
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Nephrocystin 1 (NPHP1) is a ciliary and cell-junction protein characterized by SH3-containing interaction domains that facilitate the regulation of epithelial polarity, cell division, and cell-matrix adhesion. It localizes to the primary cilium transition zone and various actin- and microtubule-based structures, where it forms protein complexes essential for ciliary trafficking and structural organization. In the kidney and retina, NPHP1 is vital for maintaining tubular and photoreceptor integrity. Pathogenic loss-of-function variants or homozygous deletions in NPHP1 are the primary cause of autosomal recessive juvenile nephronophthisis, a leading genetic cause of pediatric end-stage renal disease. Additionally, defects in this protein are associated with syndromic ciliopathies such as Senior-Løken syndrome and Joubert syndrome.