Aliases for PLCD1 Gene
External Ids for PLCD1 Gene
Previous GeneCards Identifiers for PLCD1 Gene
This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for PLCD1 Gene
PLCD1 (Phospholipase C Delta 1) is a Protein Coding gene. Diseases associated with PLCD1 include Nail Disorder, Nonsyndromic Congenital, 3 and Nonsyndromic Congenital Nail Disorder. Among its related pathways are G-Beta Gamma Signaling and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Gene Ontology (GO) annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCD3.
UniProtKB/Swiss-Prot Summary for PLCD1 Gene
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).
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.