Recombinant Human Voltage-dependent calcium channel subunit alpha-2/delta-1 (CACNA2D1), partial

1. Using human genome-wide association study (GWAS) data, evidence for association of a CACNA2D1 single-nucleotide polymorphism and primary open angle glaucoma is found. PMID: 29176626
2. we report an additional patient with the 7q21.11 deletion syndrome and provide evidence that haploinsufficiency for a single gene may not be the disease mechanism. In vitro studies of the interaction between PCLO and CACNA2D1 will be required to examine the hypothesis that combined haploinsufficiency for these two synaptic proteins results in neuronal dysfunction PMID: 28240412
3. All three patients present with epilepsy and intellectual disability pinpointing the CACNA2D1 gene as an interesting candidate gene for these clinical features. PMID: 25074461
4. Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy. PMID: 24438356
5. High prevalence of CACNA2D1, SCN5A, and CACNB2 genetic variants in the Danish population previously associated with Brugada syndrome has been found in new exome data. PMID: 23414114
6. Functional expression of CACNA2D1 is inhibited by prion protein expression with competition at glycosylphosphatidylinositol. PMID: 24329154
7. 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
8. (Review) In neurons, alpha2delta1 subunits are present mainly in presynaptic terminals; peripheral sensory nerve injury results in up-regulation of alpha2delta1 in dorsal root ganglion neurons, and there is consequent increase in trafficking of alpha2delta1 to their terminals. PMID: 20579869
9. In neocortical slices from transgenic mice having a point mutation (i.e., R217A) of the alpha2delta-1 subunit of voltage-sensitive calcium channels, pregabalin does not affect potassium-evoked glutamate release, yet inhibits this release in wild-type mice. PMID: 21464332
10. Results show that mutation of CACNA2D1 gene causes a new varant of SCTS. PMID: 21383000
11. CACNA2D1 is a novel Brugada Syndrome susceptibility gene. PMID: 20817017
12. CACNA2D1 has structural domains which contribute to the regulation of N-type calcium channel inactivation PMID: 14602720
13. Timothy syndrome is a disease of excessive cellular Ca(2+) entry and life-threatening arrhythmias 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