NPHS2 stomatin family member, podocin
Última actualización 18 Abr 2023
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El NPHS2 gene provides instructions for making a protein called podocin. Podocin is primarily found in the kidneys, which are organs that filter waste products from the blood and remove them in urine. Specifically, podocin is found in cells called podocytes, which are located in specialized kidney structures called glomeruli. Podocin is located at the cell surface in the area between two podocytes called the slit diaphragm. The slit diaphragm is known as a filtration barrier because it captures proteins in blood so that they remain in the body while allowing other molecules like sugars and salts to be excreted in urine. Podocin likely helps bring other proteins that are needed for a functional slit diaphragm to the podocyte cell surface. The protein also is involved with podocyte cell signaling, helping the cell adapt to changes that occur during the filtration process.
Normal function
El NPHS2 gene provides instructions for making a protein called podocin. Podocin is primarily found in the kidneys, which are organs that filter waste products from the blood and remove them in urine. Specifically, podocin is found in cells called podocytes, which are located in specialized kidney structures called glomeruli. Podocin is located at the cell surface in the area between two podocytes called the slit diaphragm. The slit diaphragm is known as a filtration barrier because it captures proteins in blood so that they remain in the body while allowing other molecules like sugars and salts to be excreted in urine. Podocin likely helps bring other proteins that are needed for a functional slit diaphragm to the podocyte cell surface. The protein also is involved with podocyte cell signaling, helping the cell adapt to changes that occur during the filtration process.
Conditions referring to this gene or chromosome
Otros nombres
nephrosis 2, idiopathic, steroid-resistant (podocin)
NPHS2 podocin
PDCN
podocin isoform 1
podocin isoform 2
SRN1
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Lecturas adicionales y referencias
- NPHS2 stomatin family member, podocin; MedlinePlus, National Library of Medicine.
- Grahammer F, Schell C, Huber TB. The podocyte slit diaphragm--from a thin grey line to a complex signalling hub. Nat Rev Nephrol. 2013 Oct;9(10):587-98. doi: 10.1038/nrneph.2013.169. Epub 2013 Sep 3.
- Machuca E, Benoit G, Nevo F, Tete MJ, Gribouval O, Pawtowski A, Brandstrom P, Loirat C, Niaudet P, Gubler MC, Antignac C. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27.
- Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27.
- Wang JJ, Mao JH. The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr. 2016 May;12(2):149-58. doi: 10.1007/s12519-016-0009-y. Epub 2016 Mar 9.
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