potassium voltage-gated channel subfamily A member 1
Última actualización 4 de mayo de 2023
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The KCNA1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged potassium atoms (potassium ions) into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
The KCNA1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged potassium atoms (potassium ions) into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
The KCNA1 gene provides instructions for making one part (the alpha subunit) of a potassium channel called Kv1.1. These channels are found in the brain, where they transport potassium ions into nerve cells (neurons). The flow of certain ions, including potassium, into and out of neurons regulates communication between these cells.
Conditions referring to this gene or chromosome
Otros nombres
AEMK
EA1
HBK1
HUK1
KCNA1_HUMAN
KV1.1
MBK1
MGC126782
MGC138385
MK1
potassium channel, voltage gated shaker related subfamily A, member 1
potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
RBK1
voltage-gated potassium channel subunit Kv1.1
Related patient information and medicines
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Lecturas adicionales y referencias
- potassium voltage-gated channel subfamily A member 1; MedlinePlus, National Library of Medicine.
- Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet. 1994 Oct;8(2):136-40. doi: 10.1038/ng1094-136.
- Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics. 2007 Apr;8(2):131-5. doi: 10.1007/s10048-006-0071-z. Epub 2006 Nov 29.
- Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol. 2000 Oct;48(4):647-56.
- Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007 Oct;130(Pt 10):2484-93. doi: 10.1093/brain/awm126. Epub 2007 Jun 15.
- Maylie B, Bissonnette E, Virk M, Adelman JP, Maylie JG. Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation. J Neurosci. 2002 Jun 15;22(12):4786-93. doi: 10.1523/JNEUROSCI.22-12-04786.2002.
- Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Episodic ataxia type 1: a neuronal potassium channelopathy. Neurotherapeutics. 2007 Apr;4(2):258-66. doi: 10.1016/j.nurt.2007.01.010.
- Rea R, Spauschus A, Eunson LH, Hanna MG, Kullmann DM. Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. J Physiol. 2002 Jan 1;538(Pt 1):5-23. doi: 10.1113/jphysiol.2001.013242.
- Zerr P, Adelman JP, Maylie J. Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. J Neurosci. 1998 Apr 15;18(8):2842-8. doi: 10.1523/JNEUROSCI.18-08-02842.1998.
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