PLD1 phospholipase D1
Gene ID: 5337, updated on 5-Mar-2024Gene type: protein coding
Also known as: CVDD; CVDP1
- See all available tests in GTR for this gene
- Go to complete Gene record for PLD1
- Go to Variation Viewer for PLD1 variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Cardiac valvular defect, developmental | See labs |
Genomic context
- Location:
- 3q26.31
- Sequence:
- Chromosome: 3; NC_000003.12 (171600404..171810483, complement)
- Total number of exons:
- 34
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for PLD1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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