KCNN3 Chromosome 1

Potassium calcium-activated channel subfamily N member 3
7 variants 7 Health Risk

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What This Gene Does
Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
Potassium calcium-activated channels
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143603
Associated Conditions (2)
Zimmermann-Laband syndrome 3
Inborn genetic diseases
Key Variants
All Variants (7)
RSID Category Clinical Significance Conditions
RS3831942 Health Risk Conflicting classifications of pathogenicity Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
RS76925601 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Zimmermann-Laband syndrome 3, Inborn genetic diseases
RS2524731280 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1571259807 Health Risk Pathogenic Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
RS1571260285 Health Risk Pathogenic Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
RS1571353663 Health Risk Pathogenic Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
RS2101782564 Health Risk Pathogenic Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
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