KCNMB1 Chromosome 5

Potassium calcium-activated channel subfamily M regulatory beta subunit 1
1 variant 1 Protective

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What This Gene Does
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 and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium calcium-activated channel subfamily M regulatory beta subunits
Locus Type
gene with protein product
Location
5q35.1
Ensembl
ENSG00000145936
Associated Conditions (4)
HYPERTENSION
DIASTOLIC
RESISTANCE TO
KCNMB1-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS11739136 Protective Benign; protective HYPERTENSION, DIASTOLIC, RESISTANCE TO
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