足蛋白
足蛋白(、)即腎臟的組成腎元之腎小體內的鮑氏囊上之足細胞裂隙隔膜(slit diaphragm)的蛋白質成分。腎小球毛細血管內皮細胞,腎小球基底膜及裂隙隔膜充當的腎小球濾過屏障。[1] 足蛋白基因NPHS2的突變能引起腎病症候群(NS),如局灶節段性腎小球硬化症(FSGS)或微小病變(MCD)。[2]
腎病2,特發性,類固醇抵抗性 (足蛋白) | |
---|---|
識別 | |
符號 | NPHS2 |
Entrez | 7827 |
HUGO | 13394 |
OMIM | 604766 |
RefSeq | NM_014625 |
UniProt | Q9NP85 |
其他資料 | |
基因座 | 1 q25-q31 |
註釋
- George Jarad, Jeffrey H. Miner. . Current Opinion in Nephrology and Hypertension. 2009-5, 18 (3): 226–232 [2019-02-12]. ISSN 1473-6543. (原始内容存档于2019-06-09).
- Géraldine Mollet, Julien Ratelade, Olivia Boyer, Andrea Onetti Muda, Ludivine Morisset, Tiphaine Aguirre Lavin, David Kitzis, Margaret J. Dallman, Laurence Bugeon, Norbert Hubner, Marie-Claire Gubler, Corinne Antignac, Ernie L. Esquivel. . Journal of the American Society of Nephrology: JASN. 2009-10, 20 (10): 2181–2189 [2019-02-12]. ISSN 1533-3450. PMC 2754108. PMID 19713307. doi:10.1681/ASN.2009040379. (原始内容存档于2014-11-04).
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