CACNB3
Description
The CACNB3 (calcium voltage-gated channel auxiliary subunit beta 3) is a protein-coding gene located on chromosome 12.
The CACNB3 gene, located in humans, encodes the protein Voltage-dependent L-type calcium channel subunit beta-3. It is associated with the broader category of voltage-dependent calcium channels. You can find additional information about this gene in the UCSC Genome Browser and the U.S. National Library of Medicine Medical Subject Headings (MeSH).
The CACNB3 gene encodes a regulatory subunit of voltage-gated calcium channels, specifically the L-type calcium channels. It increases the peak calcium current of both CACNA1B and CACNA1C channels, shifting their voltage dependencies for activation and inactivation. These effects are based on similarities to other known functions. The evidence for these functions comes from UniProtKB entries P54287 and Q9MZL3, as well as the PubMed publication 8119293.
CACNB3 is also known as CAB3, CACNLB3.
Associated Diseases
- thyroid gland adenocarcinoma
- dilated cardiomyopathy 1I
- ATTRV122I amyloidosis
- arterial calcification, generalized, of infancy, 2
- hypertrophic cardiomyopathy 4