CACNB4 (CACB4) (C-Term) antibody

Antigen: CACNB4 (CACB4)

Binding Site: C-Term

Clonality: Polyclonal

Host: Rabbit

Application: Immunohistochemistry (IHC), Western Blotting (WB)

Catalog no.: ABIN350160

Additional Information

UniProt: O00305

Immunogen: A synthetic peptide from the c-terminal region of human CACNB4 (CACB4, Voltage dependent L-type calcium channel subunit beta-4) conjugated to an immunogenic carrier protein was used as the immunogen. The antigen is homologous in many species including mouse and rat.

Format: Lyophilized

Description: FUNCTION: The beta subunit of voltage-dependent calcium channels 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 CACNB4 are associated with susceptibility to idiopathic generalized epilepsy (IGE). IGE is characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Defects in CACNB4 are a cause of juvenile myoclonic epilepsy (EJM). EJM is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Tissue specificity: Expressed predominantly in the cerebellum and kidney. Also known as: CACB4, Voltage-dependent L-type calcium channel subunit beta-4, Calcium channel voltage-dependent subunit beta 4.

Specificity: Appears to be specific for CACNB4.

Application Details

Application Notes: IHC, WB. A dilution of 1: 300 to 1: 2000 is recommended. The optimal dilution should be determined by the end user. Not yet tested in other applications.

Purity: whole serum

Storage: Maintain the lyophilised/reconstituted antibodies frozen at -20°C for long term storage and refrigerated at 2-8°C for a shorter term. When reconstituting, glycerol (1:1) may be added for an additional stability. Avoid freeze and thaw cycles.

Restrictions: For Research Use only

Publications

Taviaux, Williams, Harpold et al.: "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23." in: Human genetics, Vol. 100, Issue 2, pp. 151-4, 1997 (PubMed).

Escayg, Jones, Kearney et al.: "Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic." in: Genomics, Vol. 50, Issue 1, pp. 14-22, 1999 (PubMed).

Escayg, De Waard, Lee et al.: "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia." in: American journal of human genetics, Vol. 66, Issue 5, pp. 1531-9, 2000 (PubMed).

Helton, Horne: "Alternative splicing of the beta 4 subunit has alpha1 subunit subtype-specific effects on Ca2+ channel gating." in: The Journal of neuroscience : the official journal of the Society for Neuroscience, Vol. 22, Issue 5, pp. 1573-82, 2002 (PubMed).