PNPLA4 patatin like phospholipase domain containing 4
Gene ID: 8228, updated on 5-Mar-2024Gene type: protein coding
Also known as: GS2; DXS1283E; iPLA2eta
- See all available tests in GTR for this gene
- Go to complete Gene record for PNPLA4
- Go to Variation Viewer for PNPLA4 variants
Summary
This gene encodes a member of the patatin-like family of phospholipases. The encoded enzyme has both triacylglycerol lipase and transacylase activities and may be involved in adipocyte triglyceride homeostasis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome Y. [provided by RefSeq, Feb 2010]
Genomic context
- Location:
- Xp22.31
- Sequence:
- Chromosome: X; NC_000023.11 (7898247..7927724, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PNPLA4 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
- PNPLA4 @ LOVD
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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