PLCE1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PLCE1 wild-type allele is located in the vicinity of 10q23 and is approximately 334 kb in length. This allele, which encodes 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 protein, plays a role in signal transduction, cell growth, cell survival and lipid modification. Mutation of the gene is associated with nephrotic syndrome 3.

**Synonyms:** - KIAA1516 - NPHS3 - Nephrosis Type 3 Gene - PLCE - PPLC - Phospholipase C, Epsilon 1 wt Allele - Phospholipase C, Epsilon-1 Gene - RP11-76P2.1