KCNAB2 Chromosome 1

Potassium voltage-gated channel subfamily A regulatory beta subunit 2
1 variant 1 Health Risk

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What This Gene Does
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
"Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits"
Locus Type
gene with protein product
Location
1p36.31
Ensembl
ENSG00000069424
Associated Conditions (1)
KCNAB2-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS146277144 Health Risk Conflicting classifications of pathogenicity KCNAB2-related disorder, KCNAB2-related disorder
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