Gene Symbol | PLD1 |
Entrez Gene ID | 5337 |
Full Name | phospholipase D1 |
Synonyms | CVDD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]. |
Disorder MIM: | |
Disorder Html: | Cardiac valvular defect, developmental, 212093 (3) |