Gene Symbol | PLD3 |
Entrez Gene ID | 23646 |
Full Name | phospholipase D family member 3 |
Synonyms | AD19,HU-K4,HUK4,SCA46 |
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 D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]. |
Disorder MIM: | |
Disorder Html: | ?Spinocerebellar ataxia 46, 617770 (3) |