PLPP1 phospholipid phosphatase 1
Gene ID: 8611, updated on 11-Apr-2024Gene type: protein coding
Also known as: LPP1; PAP2; LLP1a; PAP-2a; PPAP2A
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- Go to complete Gene record for PLPP1
- Go to Variation Viewer for PLPP1 variants
Summary
The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme is an integral membrane glycoprotein that plays a role in the hydrolysis and uptake of lipids from extracellular space. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Genomic context
- Location:
- 5q11.2
- Sequence:
- Chromosome: 5; NC_000005.10 (55424854..55534964, complement)
- Total number of exons:
- 7
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PLPP1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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