Gene: KCNAB1

Alternate names for this Gene: AKR6A3|KCNA1B|KV-BETA-1|Kvb1.3|hKvBeta3|hKvb3

Gene Summary: Potassium 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 includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.31

Description of this Gene: potassium voltage-gated channel subfamily A member regulatory beta subunit 1

Type of Gene: protein-coding

rs4679760 in KCNAB1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs7615568 in KCNAB1 gene and Cataract, Age-Related Nuclear PMID 24951543 2014 Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.

rs13082914 in KCNAB1 gene and Coronary Artery Disease PMID 26708285 2016 A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs.

rs4680274 in KCNAB1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.