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PRKCH

Synonyms
PKC-L, PKCL, PRKCL, nPKC-eta
External resources
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. 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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
8
VUS
3,145
Likely benign
8,082
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on PRKCH gene are displayed below.

Phenotype class
Patients in 3billion (%)
Growth abnormality
50%
Abnormality of limbs
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of the nervous system
37.5%
Abnormality of head or neck
25%
Abnormality of the digestive system
25%
Abnormality of the eye
25%
Abnormality of the genitourinary system
25%
Abnormality of the integument
25%
Abnormality of the respiratory system
25%
Abnormality of prenatal development or birth
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of the ear
12.5%
Abnormality of the endocrine system
12.5%
Abnormality of the immune system
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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