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Basic information of PRKCA :

Official Symbol of Gene PRKCA
Species Homo sapiens
Entrez Gene ID 9393
Official Full Name protein kinase C alpha
Also known as AAG6; PKCA; PRKACA; PKCI+/-; PKCalpha; PKC-alpha
Gene Type protein coding
dbXrefs Ensembl:ENSG00000154229 MIM:176960; AllianceGenome:HGNC:9393
Map Location 17q24.2

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method RT-qPCR
Disease MS
Disease subtype N/A
Population Italians population
Sample Size n = 409 (case group)/n = 723 (control group)

Literature information of multiple sclerosis :

Pubmed ID 25080502
Year 2014
Title Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

Results of multiple sclerosis :

Expression down-regulation
Risk type Disease risk
Result well fitting our observation that MS patients have significantly lower PRKCA mRNA levels in blood
Mechanism/Pathway Since we demonstrated that the protein isoform produced through premature polyadenylation aberrantly localizes to the plasma membrane and/or in cytoplasmic clusters, dysregulated PRKCA 3* inclusion may represent an additional mechanism relevant to MS susceptibility