PLD3 Chromosome 19
Phospholipase D family member 3
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What This Gene Does
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]
Gene Info
Gene Group
"Phospholipases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000105223
Associated Conditions (1)
Spinocerebellar ataxia 46
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200274020 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374352480 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS545286354 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1317590341 | Health Risk | Pathogenic | Spinocerebellar ataxia 46, Spinocerebellar ataxia 46 |