Gene Symbol | PLCD1 |
Entrez Gene ID | 5333 |
Full Name | phospholipase C delta 1 |
Synonyms | NDNC3,PLC-III |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3) |