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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PLCE1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID51196
Official gene symbolPLCE1
Full namephospholipase C, epsilon 1
Aliases,FLJ23659,KIAA1516,MGC167842,NPHS3,PLCE,PPLC,
Gene summaryThis gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
LocationChromosome: 10   Locus: 10q23
Gene position95753746 - 96088149  Map Viewer
Gene orientationplus
Gene size334404 bp
Gene sequence
OMIM ID608414