NP_000717.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
voltage-dependent L-type calcium channel subunit beta-4 isoform b
NCBI Official Synonym Full Names
calcium channel, voltage-dependent, beta 4 subunit
NCBI Official Synonym Symbols
EA5; EJM; CAB4; EIG9; EJM4; EJM6; CACNLB4 [Similar Products]
NCBI Protein Information
voltage-dependent L-type calcium channel subunit beta-4; calcium channel voltage-dependent subunit beta 4; dihydropyridine-sensitive L-type, calcium channel beta-4 subunit
UniProt Protein Name
Voltage-dependent L-type calcium channel subunit beta-4
UniProt Synonym Protein Names
Calcium channel voltage-dependent subunit beta 4
UniProt Synonym Gene Names
UniProt Entry Name
CACB4_HUMAN
NCBI Summary for CACNB4
This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
UniProt Comments for CACNB4
CACNB4: 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 the cause of susceptibility to epilepsy, idiopathic generalized type 9 (EIG9). A disorder 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 the cause of susceptibility to juvenile myoclonic epilepsy type 6 (EJM6). EJM6 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. Defects in CACNB4 are the cause of episodic ataxia type 5 (EA5). EA5 is a disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. Belongs to the calcium channel beta subunit family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Channel, calcium
Chromosomal Location of Human Ortholog: 2q22-q23
Cellular Component: internal side of plasma membrane; plasma membrane; voltage-gated calcium channel complex; synapse; cytosol
Molecular Function: voltage-gated calcium channel activity; protein binding; high voltage-gated calcium channel activity; protein kinase binding
Biological Process: Peyer's patch development; spleen development; axon guidance; synaptic transmission, glutamatergic; thymus development; gamma-aminobutyric acid secretion; T cell receptor signaling pathway; adult walking behavior; cellular calcium ion homeostasis; membrane depolarization; synaptic transmission; cAMP metabolic process; transport; action potential propagation; detection of light stimulus involved in visual perception; muscle fiber development; gamma-aminobutyric acid signaling pathway; neuromuscular junction development
Disease: Episodic Ataxia, Type 5; Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Product References and Citations for anti-CACNB4 antibody
1. Hille B. (2001) Ion Channels of Excitable Membranes, 3rd Ed., Sinauer Associated Inc.: Sunderland, MA USA. 2. www.iochannels.org 3. "Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit" 4. Xie M., et al. (2007) J Cell Biol. 178(3): 489-502.
Research Articles on CACNB4
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-CACNB4 antibody
Pathways associated with anti-CACNB4 antibody
Diseases associated with anti-CACNB4 antibody
Organs/Tissues associated with anti-CACNB4 antibody
|