CACNB2


Description

The CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2) is a protein-coding gene located on chromosome 10.

CACNB2, also known as CAB2, is a protein encoded by the CACNB2 gene in humans. Mutations in this gene are associated with a range of disorders including Brugada syndrome, autism, ADHD, bipolar disorder, major depressive disorder, and schizophrenia. It plays a key role in the function of voltage-dependent L-type calcium channels, which are important for various physiological processes.

CACNB2, also known as CAB2, is a beta subunit of voltage-dependent calcium channels. It contributes to the function of the calcium channel by increasing peak calcium current and plays a role in shifting voltage dependencies of activation and inactivation of the channel. It may modulate G protein inhibition and contribute to beta-adrenergic augmentation of Ca(2+) influx in cardiomyocytes, thereby regulating increases in heart rate and contractile force. CACNB2 is involved in membrane targeting of the alpha-1 subunit CACNA1C.

CACNB2 is also known as CAB2, CACNLB2, CAVB2, MYSB.

Associated Diseases


Disclaimer

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