PRKCB Chromosome 16

Protein kinase C beta
2 variants 2 Health Risk

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What This Gene Does
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and 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 protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"C2 domain containing protein kinases|MicroRNA protein coding host genes|Protein kinase C family"
Locus Type
gene with protein product
Location
16p12.2-p12.1
Ensembl
ENSG00000166501
Associated Conditions (2)
PRKCB-related disorder
Progressive sensorineural hearing impairment
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS149128755 Health Risk Conflicting classifications of pathogenicity PRKCB-related disorder, PRKCB-related disorder
RS1131692056 Health Risk Pathogenic Progressive sensorineural hearing impairment, Progressive sensorineural hearing impairment
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