rs1386449842
This variant is located in the KCNB1 gene.
▶ClinVar annotation
Developmental and epileptic encephalopathy, 26; Inborn genetic diseases
View on ClinVar →About KCNB1
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, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]
View all KCNB1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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