PLCD1
Function
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes (PubMed:9188725). Essential for trophoblast and placental development (By similarity). Binds phosphatidylinositol 4,5-bisphosphate (PubMed:7890667, PubMed:9188725).
Involvement in disease
Nail disorder, non-syndromic congenital, 3
NDNC3
A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata).
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Strongly expressed in lung, liver and heart. Also expressed at least in pancreas, kidney, skeletal muscle, placenta and brain.
Alternative names
Phosphoinositide phospholipase C-delta-1, Phospholipase C-III, Phospholipase C-delta-1, PLC-III, PLC-delta-1, PLCD1