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Rabbit Anti-CACNB4/FITC Conjugated antibody
background:
Voltage-dependent calcium channels are essential for the release of neurotransmitters. L-type (long lasting current) voltage-dependent calcium channels are composed of four subunits: an Alpha1 subunit, a Beta subunit, a Beta subunit and an Alpha2 Gamma subunit. The Beta subunit is encoded by four genes, designated Beta1-Beta 4, all of which contribute to the diversity of calcium currents and are involved in membrane trafficking of the Beta subunit. L-type Ca++ CP Beta 4, also known as CACNB4 (Calcium channel voltage-dependent subunit beta 4), CACNLB4 or CAB4, is a 484 amino acid protein that contains one SH3 domain and is expressed in ovary, brain and smooth muscle. Functioning as one of the four components of the Beta subunit, L-type Ca++ CP Beta 4 increases the peak calcium current in voltage-dependent calcium channels, thereby shifting the voltage dependencies of activation and inactivation and controlling G protein inhibition and Beta membrane targeting. Two isoforms of L-type Ca++ CP Beta4 exist due to alternative splicing events.
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.
Subunit:
The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with FASLG.
Tissue Specificity:
Expressed predominantly in the cerebellum and kidney.
DISEASE:
Genetic variations in CACNB4 are the cause of susceptibility to idiopathic generalized epilepsy type 9 (IGE9) [MIM:607682]. IGE9 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.
Genetic variations in CACNB4 are the cause of susceptibility to juvenile myoclonic epilepsy type 6 (EJM6) [MIM:607682]. 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.
Similarity:
Belongs to the calcium channel beta subunit family.
Contains 1 SH3 domain.
Database links:
Entrez Gene: 785 Human
Entrez Gene: 12298 Mouse
Entrez Gene: 58942 Rat
Omim: 601949 Human
SwissProt: O00305 Human
SwissProt: Q8R0S4 Mouse
Unigene: 120725 Human
Unigene: 330223 Mouse
Unigene: 472778 Mouse
Unigene: 9863 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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