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Gene Family: Calcium voltage-gated channel auxiliary beta subunits (CACNB)

Voltage-dependent calcium channel: Voltage-dependent calcium channels ( VDCCs ) are a group of voltage-gated ion channels found in the membrane of excitable cells ( e.g., muscle, glial cells, neurons, etc.) with a permeability to the calcium ion Ca 2+. These channels are slightly permeable to sodium ions, so they are also called Ca 2+ -Na + channels, but their permeability to calcium is about 1000-fold greater than to sodium under normal physiological conditions. At physiologic or resting membrane potential, VDCCs are normally closed. They are activated ( i.e., opened) at depolarized membrane potentials and this is the source of the "voltage-dependent" epithet. The concentration of calcium (Ca 2+ ions) is normally several thousand times higher outside of the cell than inside. Activation of particular VDCCs allows Ca 2+ to rush into the cell, which, depending on the cell type, results in activation of calcium-sensitive potassium channels, muscular contraction, excitation of neurons, up-regulation of gene expression, or release of hormones or neurotransmitters. VDCCs have been immunolocalized in the zona glomerulosa of normal and hyperplastic human adrenal, as well as in aldosterone -producing adenomas (APA), and in the latter T-type VDCCs correlated with plasma aldosterone levels of patients. Excessive activation of VDCCs is a major component of excitotoxicity, as severely elevated levels of intracellular calcium activates enzymes which, at high enough levels, can degrade essential cellular structures. [Source: Wikipedia]

Genes contained within the family: 4

Approved Symbol Approved Name Previous Symbols Synonyms Chromosome
CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 CACNLB1 17q12
CACNB2 calcium voltage-gated channel auxiliary subunit beta 2 MYSB, CACNLB2 10p12
CACNB3 calcium voltage-gated channel auxiliary subunit beta 3 CACNLB3 12q13.12
CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 EJM4 2q23.3

Comments

The intracellular β subunit (55 kDa) is an intracellular MAGUK-like protein (Membrane-Associated Guanylate Kinase) containing a guanylate kinase (GK) domain and an SH3 (src homology 3) domain. The guanylate kinase domain of the β subunit binds to the α1 subunit I-II cytoplasmic loop and regulates HVGCC activity. There are four known genes for the β subunit.

Publications

16382099