PRKCA protein kinase C alpha
Gene ID: 5578, updated on 14-Nov-2024Gene type: protein coding
Also known as: AAG6; PKCA; PRKACA; PKCI+/-; PKCalpha; PKC-alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for PRKCA
- Go to Variation Viewer for PRKCA variants
Summary
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. GeneReviews: Not available | |
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available | |
| Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. GeneReviews: Not available | |
| Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). GeneReviews: Not available |
Genomic context
- Location:
- 17q24.2
- Sequence:
- Chromosome: 17; NC_000017.11 (66302613..66810743)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PRKCA 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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