PLCE1

PLCE1 codes for phospholipase C epsilon subunit.

Pathology

 early-onset nephrotic syndrome with end-stage kidney disease

• with diffuse mesangial sclerosis (DMS)

References

 RNA interference suppressing PLCE1 gene expression decreases invasive power of human bladder cancer T24 cell line. Ou L, Guo Y, Luo C, Wu X, Zhao Y, Cai X. Cancer Genet Cytogenet. 2010 Jul 15;200(2):110-9. PMID: 20620593

 Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O’toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nurnberg P, Hildebrandt F. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 2006 Nov 5; PMID: 17086182