CACNB1

CACNB1 is a gene that encodes the beta subunit of a calcium channel. This gene is located on the chromosome 17 in humans. The protein encoded by this gene is a part of the voltage-gated calcium channel complex, which plays a crucial role in the calcium signaling pathway.

Function

The CACNB1 gene encodes the beta-1 subunit of a voltage-dependent calcium channel. This subunit plays a key role in the assembly, trafficking, and function of the calcium channel. The calcium channel, composed of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits, mediates the influx of calcium ions into the cell upon membrane polarization. The beta-1 subunit increases the peak calcium current and shifts the voltage dependencies of activation and inactivation of the calcium channel to more negative voltages.

Clinical Significance

Mutations in the CACNB1 gene have been associated with Brugada syndrome, a genetic disorder that can cause a dangerous irregular heartbeat or sudden unexpected death in seemingly healthy individuals.

Research

Research on the CACNB1 gene is ongoing, with studies investigating its role in various diseases and conditions, including cardiovascular diseases, neurological disorders, and certain types of cancer.

See Also

• Calcium channel
• Brugada syndrome
• Voltage-gated ion channel
• Calcium signaling

References

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