CACNA2D1 | definition of CACNA2D1 by Medical dictionary
CACNA2D1 A gene on chromosome7q21-q22 that encodes the alpha-2D1 subunit of a voltage-dependent calcium channel, which regulates calcium current density and activation/inactivation kinetics of the calcium channel, and which plays an important role in excitation-contraction coupling.
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References in periodicals archive
Di Wang et al., "Systems genetics identifies a role for Cacna2d1
regulation in elevated intraocular pressure and glaucoma susceptibility," Nature Communications, vol.
Expression of Cacna1d (3-fold), Cacna1g, Cacna1h (4-fold), Cacna2d1
, Cacna2d3, and Cacng4 (3-fold) were downregulated in GK compared to control SAN.
Instead, this glaucoma-like phenotype seems to be regulated primarily by other genes such as the calcium voltage-gated channel auxiliary subunit alpha2delta1 (Cacna2d1
) which has broader relevance for POAG .