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Products Polyclonal Anti-NPHS2
| Catalogue number: | PA1322-1 |
| Price: | $200.00 |
| Reactivities: | Human, Mouse, Rat |
| Applications: | Immunohistochemistry, Immunohistochemistry - frozen, Western Blot |
| Size: | 100?g/vial |
| Gene: | NPHS2 |
| Swiss prot: | Q9NP85 |
| Form: | Lyophilized |
| Format: | Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. |
| Storage temp: | At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time. Avoid repeated freezing and thawing. |
| Scientific background: | Podocin (PDCN) is a protein which lines the podocytes and assists in maintaining the barrier at the glomerular basement membrane. NPHS2 is a causative gene for Familial idiopathic nephrotic syndromes, which represents a heterogeneous group of kidney disorders, and include autosomal recessive steroid-resistant nephrotic syndrome, which is characterized by early childhood onset of proteinuria, rapid progression to end-stage renal disease and focal segmental glomerulosclerosis. By positional cloning, NPHS2 was mapped to 1q25-31. It is almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral membrane protein, podocin, belonging to the stomatin protein family. Ten different NPHS2 mutations were found, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier. |
| References: | 1. Boute, N.; Gribouval, O.; Roselli, S.; Benessy, F.; Lee, H.; Fuchshuber, A.; Dahan, K.; Gubler, M.-C.; Niaudet, P.; Antignac, C. : NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nature Genet. 24: 349-354, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000. |
| Additional info: | A synthetic peptide corresponding to a sequence at the C-terminus of human NPHS2, identical to the related mouse sequence, and different from the related rat sequence by one amino acid. |
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