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KCNMB3  -  potassium channel subfamily M regulatory...

Homo sapiens

Synonyms: BK channel subunit beta-3, BKBETA3, BKbeta3, Calcium-activated potassium channel subunit beta-3, Calcium-activated potassium channel, subfamily M subunit beta-3, ...
 
 
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Disease relevance of KCNMB3

  • The present results suggest that the functional KCNMB3 beta3b-truncation confers a common epileptogenic effect preferentially to the ictogenesis of typical absence seizures [1].
  • The gene encoding the beta3-subunit regulatory subunit (KCNMB3) of large conductance calcium-sensitive potassium (BK) channels represents a positional and functional candidate gene for idiopathic generalized epilepsy (IGE) [1].
 

High impact information on KCNMB3

  • Cloning and functional characterization of novel large conductance calcium-activated potassium channel beta subunits, hKCNMB3 and hKCNMB4 [2].
  • A single base pair deletion in exon 4 of KCNMB3 (delA750) alters/truncates the terminal 21 amino acids of the 3-subunit and affects channel inactivation of the beta3b-isoform [1].
 

Anatomical context of KCNMB3

  • Profiling mRNA expression showed that hKCNMB3 expression is enriched in testis and hKCNMB4 expression is very prominent in brain [3].
 

Associations of KCNMB3 with chemical compounds

  • (Brenner, R., Jegla, T.J., Wickenden, A., Liu, Y., Aldrich, R.W. 2000. Cloning and functional expression of novel large-conductance calcium-activated potassium channel beta subunits, hKCNMB3 and hKCNMB4. J. Biol. Chem.275:6453-6461.)[4]

References

  1. Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy. Lorenz, S., Heils, A., Kasper, J.M., Sander, T. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2007) [Pubmed]
  2. Cloning and functional characterization of novel large conductance calcium-activated potassium channel beta subunits, hKCNMB3 and hKCNMB4. Brenner, R., Jegla, T.J., Wickenden, A., Liu, Y., Aldrich, R.W. J. Biol. Chem. (2000) [Pubmed]
  3. hKCNMB3 and hKCNMB4, cloning and characterization of two members of the large-conductance calcium-activated potassium channel beta subunit family. Behrens, R., Nolting, A., Reimann, F., Schwarz, M., Waldschütz, R., Pongs, O. FEBS Lett. (2000) [Pubmed]
  4. Properties of BK(Ca) channels formed by bicistronic expression of hSloalpha and beta1-4 subunits in HEK293 cells. Lippiat, J.D., Standen, N.B., Harrow, I.D., Phillips, S.C., Davies, N.W. J. Membr. Biol. (2003) [Pubmed]
 
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