Genetic association has been found between the PRKCB1 gene and autism in the AGRE cohort (Philippi et al., 2005). However, no association was found between PRKCB1 and autism in the Irish population.
Molecular Function
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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism.
PKC-betaI and PKC-betaII play an important role in B cell activation and may be functionally linked to Bruton's tyrosine kinase in antigen receptor-mediated signal transduction.
References
Type
Title
Author, Year
Primary
Immunodeficiency in protein kinase cbeta-deficient mice.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Insertion of a lacZ-neo cassette into the second exon of the PKC- gene by homologous recombination.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129/Sv
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Description: Decreased frequency and absolute number of cd23- immunoglobulin m+ (igm+) (b-1) b lymphocytes, cd5+ igm+ (b-1a), and splenic b cells
Exp Paradigm: Three color flow cytometry analysis in peritoneal cavity
Adaptive immune response: b cells antibody production1
Decreased
Description: Absence of humoral immune response to np-ficoll; decreased primary antibody response to hapten (np) and carrier (cg) antigen
Exp Paradigm: Immunoblot analysis after immunization with t cell-dependent and independent stimulation
Description: Decreased proliferation of b cells in response to stimulation with antibody to igm
Exp Paradigm: Macs bs column seperation followed by protein immunoblot analysis
