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Gene : KCNA1 Homo sapiens

Name  ? potassium voltage-gated channel subfamily A member 1 Cytological Location  12p13.32
Brief Description  potassium voltage-gated channel subfamily A member 1
Description  This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]
  • synonyms:
  • RBK1,
  • L02750,
  • EA1,
  • AEMK,
  • MBK1,
  • potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia),
  • Kv1.1,
  • MK1,
  • HUK1,
  • RBK1,
  • MBK1,
  • uc001qnh.4,
  • HGNC:6218,
  • KV1.1,
  • NM_000217,
  • KCNA1,
  • HBK1,
  • OTTHUMG00000044398,
  • HUK1,
  • AEMK
  • identifiers:
  • 3736,
  • ENSG00000111262,
  • KCNA1

Genome feature

Region: gene ? Length: 8352  
Location: 12:4909905-4918256 Cyto location: 12p13.32


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Disease

1 Diseases

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189 SN Ps

5 Cross References

18 Data Sets

37 Homologues

0 Located Features

97 Rna Seq Results