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Cacna1f  -  calcium channel, voltage-dependent, alpha...

Mus musculus

Synonyms: A930034B14, Cav1.4, Sfc17, Voltage-dependent L-type calcium channel subunit alpha-1F, Voltage-gated calcium channel subunit alpha Cav1.4, ...
 
 
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Disease relevance of Cacna1f

  • Cacna1f expression in photoreceptor-negative mice strains indicate that the gene is expressed in the outer nuclear, the inner nuclear, and the ganglion cell layer [1].
  • Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness [2].
 

High impact information on Cacna1f

 

Anatomical context of Cacna1f

  • Calcium imaging in Fluo-4 loaded retinal slices depolarized with KCl showed 90% less peak signal in the photoreceptor synapses of the Cacna1f mutant than in wild-type mice [4].
 

Analytical, diagnostic and therapeutic context of Cacna1f

References

  1. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Wutz, K., Sauer, C., Zrenner, E., Lorenz, B., Alitalo, T., Broghammer, M., Hergersberg, M., de la Chapelle, A., Weber, B.H., Wissinger, B., Meindl, A., Pusch, C.M. Eur. J. Hum. Genet. (2002) [Pubmed]
  2. Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. Naylor, M.J., Rancourt, D.E., Bech-Hansen, N.T. Genomics (2000) [Pubmed]
  3. Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function. Haeseleer, F., Imanishi, Y., Maeda, T., Possin, D.E., Maeda, A., Lee, A., Rieke, F., Palczewski, K. Nat. Neurosci. (2004) [Pubmed]
  4. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Mansergh, F., Orton, N.C., Vessey, J.P., Lalonde, M.R., Stell, W.K., Tremblay, F., Barnes, S., Rancourt, D.E., Bech-Hansen, N.T. Hum. Mol. Genet. (2005) [Pubmed]
 
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