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The pathological conditions of SRN1 correlate well with mutations at the NPHS2 gene, where expression of a protein known as Podocin occurs. Abnormal or inefficient signaling through Podocin protein-dependent networks contributes to the development of podocyte dysfunction and proteinuria. The human NPHS2 gene maps to chromosome 1q25-q31 and encodes a 383 amino acid protein. Podocin is an integral membrane protein that appears to fold into a hairpin-like structure with intracellular amino- and carboxy-termini. Transmembrane and cytoplasmic portions of Podocin share homology to the corresponding regions of the stomatin family proteins. Expression of high-order oligomers of Podocin in glomerular podocytes may reflect a scaffolding function that influences proper function of the glomerular filtration barrier, which is necessary for renal stability.
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蛋白别名: nephrosis 2 homolog, podocin; nephrosis 2, idiopathic, steroid-resistant (podocin); NPHS2 podocin; Podocin
基因别名: AI790225; NPHS2; PDCN; SRN1
UniProt ID: (Human) Q9NP85, (Mouse) Q91X05
Entrez Gene ID: (Human) 7827, (Mouse) 170484