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Gene Review

CACNA1H  -  calcium channel, voltage-dependent, T type...

Homo sapiens

Synonyms: CACNA1HB, Cav3.2, ECA6, EIG6, Low-voltage-activated calcium channel alpha1 3.2 subunit, ...
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Disease relevance of CACNA1H


High impact information on CACNA1H


Biological context of CACNA1H


Other interactions of CACNA1H

  • We then used this fragment to screen human heart and rat brain lambda gt10 libraries, leading to the cloning of two full-length cDNAs derived from distinct genes (CACNA1G and CACNA1H) [13].
  • Nucleotide sequencing and homology search analysis showed that these spots represented the voltage-dependent calcium channel alpha1H subunit gene (CACNA1H gene) and a locus immediately downstream of the growth factor receptor-binding protein 7 (GRB7) gene [1].
  • Three T-channel genes were identified: CACNA1G, encoding Ca(v)3.1; CACNA1H, encoding Ca(v)3.2; and CACNA1I, encoding Ca(v)3 [14].

Analytical, diagnostic and therapeutic context of CACNA1H


  1. Identification of a new breast cancer-related gene by restriction landmark genomic scanning. Asaga, S., Ueda, M., Jinno, H., Kikuchi, K., Itano, O., Ikeda, T., Kitajima, M. Anticancer Res. (2006) [Pubmed]
  2. A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies. Zhong, X., Liu, J.R., Kyle, J.W., Hanck, D.A., Agnew, W.S. Hum. Mol. Genet. (2006) [Pubmed]
  3. Genetic dissection of the common epilepsies. Tan, N.C., Mulley, J.C., Scheffer, I.E. Curr. Opin. Neurol. (2006) [Pubmed]
  4. Aberrant expression of the MEL1S gene identified in association with hypomethylation in adult T-cell leukemia cells. Yoshida, M., Nosaka, K., Yasunaga, J., Nishikata, I., Morishita, K., Matsuoka, M. Blood (2004) [Pubmed]
  5. Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family. Cribbs, L.L., Lee, J.H., Yang, J., Satin, J., Zhang, Y., Daud, A., Barclay, J., Williamson, M.P., Fox, M., Rees, M., Perez-Reyes, E. Circ. Res. (1998) [Pubmed]
  6. Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. Khosravani, H., Bladen, C., Parker, D.B., Snutch, T.P., McRory, J.E., Zamponi, G.W. Ann. Neurol. (2005) [Pubmed]
  7. Association between genetic variation of CACNA1H and childhood absence epilepsy. Chen, Y., Lu, J., Pan, H., Zhang, Y., Wu, H., Xu, K., Liu, X., Jiang, Y., Bao, X., Yao, Z., Ding, K., Lo, W.H., Qiang, B., Chan, P., Shen, Y., Wu, X. Ann. Neurol. (2003) [Pubmed]
  8. CACNA1H mutations in autism spectrum disorders. Splawski, I., Yoo, D.S., Stotz, S.C., Cherry, A., Clapham, D.E., Keating, M.T. J. Biol. Chem. (2006) [Pubmed]
  9. Genetic variation of CACNA1H in idiopathic generalized epilepsy. Heron, S.E., Phillips, H.A., Mulley, J.C., Mazarib, A., Neufeld, M.Y., Berkovic, S.F., Scheffer, I.E. Ann. Neurol. (2004) [Pubmed]
  10. Characterization of human gamma-tryptases, novel members of the chromosome 16p mast cell tryptase and prostasin gene families. Caughey, G.H., Raymond, W.W., Blount, J.L., Hau, L.W., Pallaoro, M., Wolters, P.J., Verghese, G.M. J. Immunol. (2000) [Pubmed]
  11. New variants in the CACNA1H gene identified in childhood absence epilepsy. Liang, J., Zhang, Y., Wang, J., Pan, H., Wu, H., Xu, K., Liu, X., Jiang, Y., Shen, Y., Wu, X. Neurosci. Lett. (2006) [Pubmed]
  12. Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. Vitko, I., Chen, Y., Arias, J.M., Shen, Y., Wu, X.R., Perez-Reyes, E. J. Neurosci. (2005) [Pubmed]
  13. Molecular characterization of two members of the T-type calcium channel family. Perez-Reyes, E., Lee, J.H., Cribbs, L.L. Ann. N. Y. Acad. Sci. (1999) [Pubmed]
  14. Molecular biology of T-type calcium channels. Perez-Reyes, E., Lory, P. CNS & neurological disorders drug targets (2006) [Pubmed]
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