Disease relevance of CACNA2D1

• We determined the structural organization of CACNA2 by isolation of overlapping genomic DNA clones from a human phage library [1].
• CACNA2 encodes the alpha(2)/delta subunit of the human voltage-gated calcium channels and is located in the candidate region of malignant hyperthermia susceptibility type 3 (MHS3) [1].
• Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved [2].

High impact information on CACNA2D1

• A new dinucleotide repeat marker close to CACNL2A was identified at the D7S849 locus and tested for linkage in six MHS families [3].
• In this report, we describe the cloning and partial DNA sequence analysis of the gene encoding the alpha 2/delta-subunits, CACNL2A, and its localization on the proximal long arm of chromosome 7q [3].
• The sequence analysis provides the basis for comprehensive mutation screening of CACNA2 for putative MHS3 individuals and patients with other channelopathies [1].
• Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis [4].
• Site-directed mutagenesis was performed, and CHO-K1 cells were cotransfected with cDNAs encoding wild-type or mutant CACNB2b (Ca(v beta2b)), CACNA2D1 (Ca(v alpha2delta1)), and CACNA1C tagged with enhanced yellow fluorescent protein (Ca(v)1.2) [5].

Associations of CACNA2D1 with chemical compounds

• The polar polysaccharide capsule of Hyphomonas adhaerens MHS-3 has a strong affinity for gold [6].

Analytical, diagnostic and therapeutic context of CACNA2D1

• Linkage studies and fluorescence in situ hybridization analysis demonstrated that the CACNL2A locus is localized outside the WS deleted region [2].

References