Introduction of CACNA2D4
CACNA2D4, voltage-dependent calcium channel subunit alpha-2/delta-4, is encoded by CACNA2D4 gene. It belongs to the alpha-2/delta subunit family which has been extensively studied during the past few decades because it offers various functions in calcium channel regulations and the possibilities for diseases treatment. CACNA2D4 is commonly expressed in many kinds of endocrine cells, such as the paneth cells of the small intestine, the erythroblasts in the fetal liver as well as the zona reticularis of the adrenal gland. Meanwhile, it can also regulate calcium current density and activation/inactivation kinetics of the calcium channel.
|Basic Information of CACNA2D4|
|Protein Name||Voltage-dependent calcium channel subunit alpha-2/delta-4|
|Organism||Homo sapiens (Human)|
Function of CACNA2D4 Membrane Protein
CACNA2D4 is a protein of the voltage-dependent calcium channel complex. It is known to regulate high voltage activated calcium channels mainly by increasing channel presence on the cell membrane, and by modulating channel gating properties. Researches conducted on CACNA2D4 indicate that it is related to many diseases, for instance, retinal cone dystrophy 4 and retinitis pigmentosa. In this condition, it has been regarded as a potential therapeutic target in the retina. The mutations of CACNA2D4 have been reported to cause cone and cone-rod dystrophies in a human family and in a spontaneous mouse model.
Fig.1 Structure of voltage-gated calcium channels.
Application of CACNA2D4 Membrane Protein in Literature
This article conducts whole exome sequencing (WES) and whole genome sequencing (WGS) to analyze genetic variants in two unaffected family members. The results show that one heterozygous deletion in CACNA2D4, and the other homozygous deletion in a retina transcript of C21orf2 are related with retinal degeneration.
This article reveals that novel potential biomarkers (GABBR1, GRIN2D, CACNA2D4, PSEN2) support a molecular link between maltreatment and poor health outcomes in epigenetic signatures of childhood abuse and neglect.
Authors in this group examine the presence and absence of the mutation of CACNA2D4 in vivo on mouse retina and in vitro in HEK293T cells by RT-PCR. The data show the c.2451insC mutation has an effect on splicing and increases the proportion of transcripts including E25b.
This article focuses on a novel algorithmic approach to find the association between SNPs and diseases. The data indicate that RYR2 on chr1q43 and CACNA2D4 on chr12p13 are significantly related with the Wellcome Trust bipolar disorder.
Authors carry on a genome-wide association study to identify the association between CACNA1C and bipolar disorder (BPD). Meanwhile, they analyze the SNP variants of CACNA2D4 in two unrelated late onset bipolar I patients and in one control individual. These results demonstrate that a CACNA2D4 deletion and a CACNA1C mutation in BPD patients could be biomarkers for the clinic.
CACNA2D4 Preparation Options
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