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PRKCH protein kinase C eta

Gene ID: 5583, updated on 29-Mar-2023
Gene type: protein coding
Also known as: PKCL; PKC-L; PRKCL; uORF2; nPKC-eta


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. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]

Associated conditions

See all available tests in GTR for this gene

A genome-wide association study for reading and language abilities in two population cohorts.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
GeneReviews: Not available
Ischemic stroke
MedGen: C0948008OMIM: 601367GeneReviews: Not available
See labs
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
GeneReviews: Not available

Genomic context

Chromosome: 14; NC_000014.9 (61187468..61550976)
Total number of exons:


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