Gene: PPP3CA

Alternate names for this Gene: ACCIID|CALN|CALNA|CALNA1|CCN1|CNA1|IECEE|IECEE1|PPP2B

Gene Summary:

Gene is located in Chromosome: 4

Location in Chromosome : 4q24

Description of this Gene: protein phosphatase 3 catalytic subunit alpha

Type of Gene: protein-coding

rs2583410 in PPP3CA gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1553920374 in PPP3CA gene and EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 PMID 28942967 2017 De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

PMID 29432562 2018 Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

rs1553923787 in PPP3CA gene and Multiple congenital anomalies PMID 8052858 1994 Calcineurin inhibition of dynamin I GTPase activity coupled to nerve terminal depolarization.

PMID 3029762 1987 Differential localization of calmodulin-dependent enzymes in rat brain: evidence for selective expression of cyclic nucleotide phosphodiesterase in specific neurons.

PMID 28942967 2017 De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

PMID 27597899 2016 The Emerging Roles of the Calcineurin-Nuclear Factor of Activated T-Lymphocytes Pathway in Nervous System Functions and Diseases.

PMID 24140049 2014 The effects of early-life seizures on hippocampal dendrite development and later-life learning and memory.

PMID 22015374 2012 Molecular diagnostics of calcineurin-related pathologies.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 25245802 2015 Activation of calcineurin underlies altered trafficking of α2 subunit containing GABAA receptors during prolonged epileptiform activity.

PMID 11461966 2001 A significant increase in both basal and maximal calcineurin activity in the rat pilocarpine model of status epilepticus.

PMID 20700442 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

PMID 15800199 2005 AMPA/kainate receptor-mediated downregulation of GABAergic synaptic transmission by calcineurin after seizures in the developing rat brain.

PMID 10627609 2000 Regulation of calcineurin by growth cone calcium waves controls neurite extension.

PMID 10473536 1999 The calcineurin-dynamin 1 complex as a calcium sensor for synaptic vesicle endocytosis.

rs1031034 in PPP3CA gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.