TRANSPORTERS FROM HUMANS:
| Transporter Information: | |
| Name: | calcium channel, voltage-dependent, L type, alpha 1B subunit |
|---|---|
| Symbol: | CACNA1B |
| TC: | 1.A.1.11.3 |
| Locations: | 9q34 |
| Aliases: | CACNN |
| Swiss-Prot: | Q00975 |
| Accession Number: | NM_000718 |
| GDB | GDB:580689 |
| LocusLink | 774 |
| OMIM | 601012 |
| PubMed (8825650): | Diriong S, Lory P, Williams ME, Ellis SB, Harpold MM, Taviaux S. Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha1E voltage-dependent Ca2+ channel subunits.Genomics. 1995 Dec 10;30(3):605-9. PMID: 8825650 [PubMed - indexed for MEDLINE] The alpha 1 subunit genes encoding voltage-dependent Ca2+ channels are members of a gene family. We have used human brain cDNA probes to localize the neuronal isoform genes CACNL1A4 (alpha 1A), CACNL1A5 (alpha 1B), and CACNL1A6 (alpha 1E) to 19p13, 9q34, and 1q25-q31, respectively, using fluorescence in situ hybridization on human chromosomes. These genes are particularly interesting gene candidates in the pathogenesis of neuronal disorders. Although genetic disorders have been linked to loci 9q34 and 19p13, no genetic disease related to Ca2+ signaling defects has yet been linked to these loci. |