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KCNB1 gene
URL of this page: https://medlineplus.gov/genetics/gene/kcnb1/

KCNB1 gene

potassium voltage-gated channel subfamily B member 1

Normal Function

The KCNB1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium in and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

The KCNB1 gene provides instructions for making one part of a potassium channel called Kv2.1. These channels are found primarily in nerve cells (neurons) in the brain where they transport potassium ions out of neurons. The flow of ions through potassium channels in neurons plays a role in regulating the activity of neurons and sending electrical signals in the brain, allowing communication between these cells.

Health Conditions Related to Genetic Changes

KCNB1 encephalopathy

More than 45 mutations in the KCNB1 gene have been found to cause a condition called KCNB1 encephalopathy. This condition is characterized by abnormal brain function (encephalopathy), recurrent seizures (epilepsy), and developmental delay.

Most KCNB1 gene mutations change single protein building blocks (amino acids), altering the proteins. Other mutations introduce a premature stop signal in the instructions for making the protein, resulting in production of a shortened, nonfunctional protein. All KCNB1 gene mutations impair Kv2.1 channel function. Channels made with the abnormal proteins are unable to function, which reduces Kv2.1 channel function in the brain. As a result, the channels cannot regulate the flow of potassium ions in neurons, which disrupts normal communication between these cells. Impaired channel function disrupts normal brain development and leads to seizures, intellectual disability, and other features of encephalopathy that occur in this condition.

More About This Health Condition

Other Names for This Gene

  • DEE26
  • DRK1
  • Kv2.1
  • potassium channel, voltage-gated, shab-related subfamily, member 1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guet A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Citation on PubMed
  • de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Moller RS, Koeleman BPC. Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714. Citation on PubMed
  • Misonou H, Mohapatra DP, Trimmer JS. Kv2.1: a voltage-gated k+ channel critical to dynamic control of neuronal excitability. Neurotoxicology. 2005 Oct;26(5):743-52. doi: 10.1016/j.neuro.2005.02.003. Epub 2005 Jun 9. Citation on PubMed
  • Sahoo N, Hoshi T, Heinemann SH. Oxidative modulation of voltage-gated potassium channels. Antioxid Redox Signal. 2014 Aug 20;21(6):933-52. doi: 10.1089/ars.2013.5614. Epub 2013 Oct 26. Citation on PubMed
  • Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA. De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol. 2014 Oct;76(4):529-540. doi: 10.1002/ana.24263. Epub 2014 Sep 19. Citation on PubMed

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