Calcium voltage-gated channel auxiliary subunit beta 2 (CACNB2) is a part of voltage-gated calcium channel gene superfamily and encodes Cavβ2 subunit. In human chromosome, the gene CACNB2 is localized on 10p12.33-p12.31.
Immunogen
Synthetic peptide directed towards the middle region of human CACNB2
Biochem/physiol Actions
CACNB2 contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. Defects in CACNB2 are the cause of Brugada syndrome type 4 (BRS4). CACNB2 is associated with systolic blood pressure and hypertension. Downregulation of CACNB2 expression leads to atrial fibrillation. Mutations in CACNB2 causes dysregulation of calcium levels in cells leading to autism spectrum disorder. Single nucleotide polymorphism in CACNB2 gene is associated with bipolar disorder and schizophrenia.
Sequence
Synthetic peptide located within the following region: HLADYLEAYWKATHPPSSSLPNPLLSRTLATSSLPLSPTLASNSQGSQGD
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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Autism Spectrum Disorders (ASD) are complex neurodevelopmental diseases clinically defined by dysfunction of social interaction. Dysregulation of cellular calcium homeostasis might be involved in ASD pathogenesis, and genes coding for the L-type calcium channel subunits CaV1.2 (CACNA1C) and CaVβ2 (CACNB2)
Two large-scale genome-wide association studies (GWAs) have identified multiple variants associated with blood pressure (BP) or hypertension. The present study was to investigate whether some variations were associated with BP traits and hypertension or even prehypertension in adult She ethnic
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