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Gene Review

PLCE1  -  phospholipase C, epsilon 1

Homo sapiens

Synonyms: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1, KIAA1516, NPHS3, PLC-epsilon-1, PLCE, ...
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Disease relevance of PLCE1

  • A new study reports mutations in PLCE1 responsible for an autosomal recessive nephrotic syndrome in children that presents with diffuse mesangial sclerosis or focal segmental glomerulosclerosis [1].


  1. A new piece in the nephrotic puzzle. Quaggin, S.E. Nat. Genet. (2006) [Pubmed]
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