Gene: KCNMA1

Alternate names for this Gene: BKTM|CADEDS|IEG16|KCa1.1|LIWAS|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1

Gene Summary: MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.3

Description of this Gene: potassium calcium-activated channel subfamily M alpha 1

Type of Gene: protein-coding

rs603788 in KCNMA1 gene and Blood Pressure PMID 24954895 2014 Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.

rs7095163 in KCNMA1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11001963 in KCNMA1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs207675 in KCNMA1 gene and Chronic Obstructive Airway Disease PMID 29631575 2018 The genetics of smoking in individuals with chronic obstructive pulmonary disease.

rs603788 in KCNMA1 gene and Diastolic blood pressure PMID 24954895 2014 Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.

rs137853333 in KCNMA1 gene and Generalized Epilepsy and Paroxysmal Dyskinesia PMID 26195193 2015 De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.

PMID 15937479 2005 Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.

rs3127447 in KCNMA1 gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs603788 in KCNMA1 gene and Mean blood pressure PMID 24954895 2014 Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.

rs2670117 in KCNMA1 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs10824518 in KCNMA1 gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.