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CACNA1D  -  calcium channel, voltage-dependent, L type...

Homo sapiens

Synonyms: CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, ...
 
 
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Disease relevance of CACNA1D

 

High impact information on CACNA1D

  • We recently have cloned a human alpha 1-subunit of the VDCC expressed in pancreatic beta-cells, designated CACN4 [2].
  • Rat CACN4A is a protein of 2203 amino acids and is the rat homolog of human CACN4, whereas rCACN4B lacks 535 amino acids in the carboxyl-terminal region, probably due to alternative splicing [2].
  • The alpha 1 subunit (CACN4) and the beta subunit (beta 3) of VDCCs, both of which are expressed in pancreatic islets, are major components for the VDCC activity, and so they may play a critical role in the regulation of insulin secretion [1].
  • The CACNL1A2 gene spans more than 155 kb and has 49 exons [1].
  • Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3 [4].
 

Biological context of CACNA1D

 

Anatomical context of CACNA1D

  • Molecular diversity and functional characterization of voltage-dependent calcium channels (CACN4) expressed in pancreatic beta-cells [2].
  • The CACN4 is structurally related to other members of the VDCC alpha 1 subunit family, including skeletal muscle, cardiac, and brain types [3].
 

Analytical, diagnostic and therapeutic context of CACNA1D

References

  1. The structures of the human calcium channel alpha 1 subunit (CACNL1A2) and beta subunit (CACNLB3) genes. Yamada, Y., Masuda, K., Li, Q., Ihara, Y., Kubota, A., Miura, T., Nakamura, K., Fujii, Y., Seino, S., Seino, Y. Genomics (1995) [Pubmed]
  2. Molecular diversity and functional characterization of voltage-dependent calcium channels (CACN4) expressed in pancreatic beta-cells. Ihara, Y., Yamada, Y., Fujii, Y., Gonoi, T., Yano, H., Yasuda, K., Inagaki, N., Seino, Y., Seino, S. Mol. Endocrinol. (1995) [Pubmed]
  3. CACN4, the major alpha 1 subunit isoform of voltage-dependent calcium channels in pancreatic beta-cells: a minireview of current progress. Seino, S. Diabetes Res. Clin. Pract. (1995) [Pubmed]
  4. Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3. Seino, S., Yamada, Y., Espinosa, R., Le Beau, M.M., Bell, G.I. Genomics (1992) [Pubmed]
  5. The human chromosome 3 gene cluster ACY1-CACNA1D-ZNF64-ATP2B2 is evolutionarily conserved in Ateles paniscus chamek (Platyrrhini, Primates). Seuánez, H.N., Lachtermacher, M., Canavez, F., Moreira, M.A. Cytogenet. Cell Genet. (1997) [Pubmed]
  6. A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3. Chin, H.M., Kozak, C.A., Kim, H.L., Mock, B., McBride, O.W. Genomics (1991) [Pubmed]
 
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