人 NPHS2 抗体对
01AB00547
NPHS2 stomatin family member, podocin (NPHS2), encoded by the NPHS2 gene, is a critical protein primarily located in the kidneys, specifically within podocytes that form the filtration barrier of the glomeruli. This integral membrane protein, composed of 383 amino acids, plays a vital role in maintaining glomerular permeability by acting as a linker between the plasma membrane and the cytoskeleton, facilitating proper assembly of the slit diaphragm—a structure essential for filtering blood while retaining proteins. Mutations in NPHS2 are predominantly associated with congenital nephrotic syndrome, a severe kidney disorder that manifests in infancy and can lead to end-stage renal disease by early childhood. Additionally, NPHS2 mutations can cause other forms of nephrotic syndrome that develop later in life, such as infantile nephrotic syndrome.
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技术参数
- 靶点基因名
- NPHS2
- 蛋白别名
- NPHS2 stomatin family member, podocin; NPHS2
- UniProt
- Q9NP85
- 物种
- Human
产品详情
- 靶点名称
- NPHS2
- 蛋白名称
- NPHS2 stomatin family member, podocin
- 蛋白别名
- Podocin
- 靶点基因名
- NPHS2
- UniProt
- Q9NP85
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
NPHS2 stomatin family member, podocin (NPHS2), encoded by the NPHS2 gene, is a critical protein primarily located in the kidneys, specifically within podocytes that form the filtration barrier of the glomeruli. This integral membrane protein, composed of 383 amino acids, plays a vital role in maintaining glomerular permeability by acting as a linker between the plasma membrane and the cytoskeleton, facilitating proper assembly of the slit diaphragm—a structure essential for filtering blood while retaining proteins. Mutations in NPHS2 are predominantly associated with congenital nephrotic syndrome, a severe kidney disorder that manifests in infancy and can lead to end-stage renal disease by early childhood. Additionally, NPHS2 mutations can cause other forms of nephrotic syndrome that develop later in life, such as infantile nephrotic syndrome.