CACNA2D1 Antibody

• Genome-wide association studies (GWAS) have shown an association between a single-nucleotide polymorphism in CACNA2D1 and primary open-angle glaucoma. PMID: 29176626
• Research indicates that haploinsufficiency for a single gene might not be the underlying mechanism for the 7q21.11 deletion syndrome. In vitro studies investigating the interaction between PCLO and CACNA2D1 are necessary to explore the hypothesis that combined haploinsufficiency of these two synaptic proteins contributes to neuronal dysfunction. PMID: 28240412
• Patients exhibiting epilepsy and intellectual disability implicate the CACNA2D1 gene as a potential candidate gene for these clinical features. PMID: 25074461
• Compound mutations in the CACNA2D1 and RANGRF genes have been identified. This is the first comprehensive report of the co-occurrence of these mutations and histiocytoid cardiomyopathy. PMID: 24438356
• Recent exome data has revealed a high prevalence of CACNA2D1, SCN5A, and CACNB2 genetic variants in the Danish population, previously linked to Brugada syndrome. PMID: 23414114
• Prion protein expression inhibits functional expression of CACNA2D1 through competition at glycosylphosphatidylinositol. PMID: 24329154
• This study reports the identification and characterization of the human alpha2delta-1 subunit gene promoter region and its regulation by specific transcription factor 1. PMID: 23242029
• (Review) In neurons, alpha2delta1 subunits are primarily found in presynaptic terminals. Peripheral sensory nerve injury leads to up-regulation of alpha2delta1 in dorsal root ganglion neurons, resulting in increased trafficking of alpha2delta1 to their terminals. PMID: 20579869
• In neocortical slices from transgenic mice with a point mutation (R217A) in the alpha2delta-1 subunit of voltage-sensitive calcium channels, pregabalin does not affect potassium-evoked glutamate release but inhibits this release in wild-type mice. PMID: 21464332
• Research demonstrates that mutations in the CACNA2D1 gene cause a new variant of SCTS. PMID: 21383000
• CACNA2D1 has been identified as a novel susceptibility gene for Brugada Syndrome. PMID: 20817017
• CACNA2D1 possesses structural domains that contribute to the regulation of N-type calcium channel inactivation. PMID: 14602720
• Timothy syndrome, characterized by excessive cellular Ca(2+) entry and life-threatening arrhythmias, is caused by a mutation in the primary cardiac L-type Ca(2+) channel (Ca(V)1.2). PMID: 19001023

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HGNC: 1399

OMIM: 114204

KEGG: hsa:781

STRING: 9606.ENSP00000349320

UniGene: Hs.282151