PCP4 Purkinje cell protein 4
Gene ID: 5121, updated on 18-Sep-2024Gene type: protein coding
Also known as: PEP-19
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- Go to complete Gene record for PCP4
- Go to Variation Viewer for PCP4 variants
Summary
Enables calcium ion binding activity and calmodulin binding activity. Involved in calmodulin dependent kinase signaling pathway and positive regulation of neuron differentiation. Located in cytosol and nucleus. Part of protein-containing complex. Biomarker of Huntington's disease and leiomyoma. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. GeneReviews: Not available |
Genomic context
- Location:
- 21q22.2
- Sequence:
- Chromosome: 21; NC_000021.9 (39867438..39929392)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PCP4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/PCP4 genetic mutations
- 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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