Introduction of CACNB4
CACNB4, known as voltage-dependent L-type calcium channel subunit beta-4, is encoded by the CACNB4 gene. CACNB4 belongs to the calcium channel beta subunit family which has been extensively studied during the past few years because it has numerous possibilities for therapeutic applications. Recent studies reveal that CACNB4 mutations may be associated with a lot of diseases, such as epilepsy, idiopathic dilated cardiomyopathy and episodic ataxia.
|Basic Information of CACNB4|
|Protein Name||Voltage-dependent L-type calcium channel subunit beta-4|
|Organism||Homo sapiens (Human)|
|Transmembrane Times||Peripheral membrane protein|
Function of CACNB4 Membrane Protein
The CACNB4 gene encodes a calcium channel subunit expressed in the heart that is important for cardiac muscle contraction. It plays a role in the regulation of cell proliferation and cell cycle progression. Studies conducted on CACNB4 suggest mutations of the neuronal Cacnb4 (β4) subunit are linked to human neuropsychiatric disorders including epilepsy and intellectual disabilities. It can be a potential biomarker for various diseases and provide new ideas for clinical therapy. It is documented that coexpression of CACNB4 with actors of the canonical Wnt/β-catenin signaling pathway in a hepatoma cell line can inhibit Wnt-responsive gene transcription and decreases cell division, in agreement with the role of the Wnt pathway in cell proliferation.
Fig.1 Structure of CACNB4 membrane protein.
Application of CACNB4 Membrane Protein in Literature
This article conducts a Genome-wide Association Study to identify susceptibility genes for idiopathic dilated cardiomyopathy in African Americans. These results show that an SNP of CACNB4 gene is significantly associated with IDC.
This article conducts a Whole genome sequencing (WGS) on 39 Korean patients with episodic ataxia (EA) to identify pathogenic mutations of the five known EA genes. The result shows that KCNA1, CACNA1A, CACNB4, SLC1A3, and UBR4 can be targeted for EA diagnoses.
Authors in this group analyze the function and transcription of the β4-subunit in a hepatoma cell line inhibits Wnt-responsive gene. The data show that β4-subunit is a TCF4 repressor and therefore appears as an interesting candidate for the regulation of Wnt/β-catenin signaling pathway in neurons where β4-subunit is specifically expressed.
This article evaluates the role of β4 subunit in cell proliferation and cell cycle progression and examines whether these functions could be altered by a pathogenic mutation. These results indicate that mutations of the β4 subunit could affect neural development and formation of the mature central nervous system.
This article examines the relationship between current drug targets and the epilepsy-related disease genes. The data reveal ten potential novel drug targets, include CACNB4, for RE therapy.
CACNB4 Preparation Options
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