Potassium Channel, Voltage-Gated, Shaker-Related Subfamily, Beta Member 1

Alternative Names

  • KCNAB1
  • KCNA1B
  • KV-Beta-1
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OMIM Number

601141

Gene Map Locus
3q25.31

Description

The protein encoded by the KCNAB1 gene is a cytoplasmic potassium channel subunit that belongs to the shaker potassium channel beta subunit family.  The protein is a homotetramer and forms a heterooctamer by interacting with potassium channel alpha subunits.  It plays an important role in accelerating channel closure and modulating action potentials.  The closure of delayed rectifier potassium channels is mediated by the N-terminal domain of the protein through physical obstruction of the pore.

Due to its function, the KCNAB1 protein is involved in several regulatory processes such as the release of neurotransmitters, secretion of insulin, contraction of smooth muscles, regulation of heart beats and neuronal excitability making it an ideal candidate gene for neurological and cardiovascular studies. 

Molecular Genetics

The KCNAB1 gene is located on the long arm of chromosome 3 and spans approximately 500 kb of genomic DNA with a coding sequence consisting of 22 exons.  As a consequence of alternative splicing, the gene encodes three isoforms of the KCNAB1 protein that differ in their N termini, namely: KvB1.1, KvB1.2 and KvB1.3.  The isoform KvB1.3 is made up of 419 amino acids and is about 46 kDA in size.  Isoforms 1 and 2 are made up of 401 and 408 amino acids, respectively.  Expression of the KCNAB1 gene has been found predominantly in the brain and heart. 

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Wakil et al. (2016) investigated susceptibility loci for Coronary Artery Disease (CAD) and Myocardial Infarction (MI) in the Saudi Arabian population by carrying out a genome wide association study on 2668 cases and 3000 controls.  To prove GWAS significance p values would have to be less than 5x10-8 while a p value less than 1x10-5 would imply a suggestive association.  The SNP rs13082914_T in the KCNAB1 gene was found to be suggestive of an association with CAD [p=3.64E-06, OR=1.21(1.09-1.34)].  The study stressed the need for further research into the function of KCNAB1 and its relationship with CAD. 

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