PRKCG

Chr 19AD

protein kinase C gamma

Also known as: PKC-gamma, PKCC, PKCG, PKCI(3), PKCgamma, SCA14

NCBI Gene: 5582 ENSG00000126583 UniProt: P05129 OMIM: 176980

The protein kinase C gamma (PRKCG) encodes a brain-specific serine/threonine kinase that regulates neuronal receptors, synaptic plasticity, and cerebellar development through phosphorylation of key targets including glutamate receptors and p53. Mutations cause spinocerebellar ataxia 14 (SCA14), a progressive cerebellar degenerative disorder with autosomal dominant inheritance. PRKCG is highly constrained against loss-of-function mutations (pLI 0.999, LOEUF 0.203), reflecting its critical role in neuronal function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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 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 distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spinocerebellar ataxia 14MIM #605361

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

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Mechanism

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GeneReview available — PRKCG