CACNA1D

CACNA1D

A gene on chromosome 3p14.3 that encodes the alpha-1D subunit of a voltage-dependent L-type calcium channel, which mediates the entry of calcium ions into excitable cells. These channels are also involved in various calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and apoptosis. CACNA1D gives rise to L-type calcium channels which belong to the high-voltage activated (HVA) group.
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3 regulates insulin release and polymorphisms in CACNA1D associate with type 2 diabetes.
Michael Stowasser: The identification of these KCNJ5, ATP1A1, ATP2B3, and CACNA1D mutations has greatly enhanced knowledge regarding the roles of these channels in adrenal physiology and pathophysiology and has the potential to lead to new diagnostic and therapeutic strategies.
10] Human genes: KCNJ5, potassium inwardly-rectifying channel subfamily J member 5; ATP1A1, sodium/potassium-transporting ATPase subunit alpha-1; ATP2B3, plasma membrane calcium-transporting ATPase 3; CACNA1D, voltage-dependent calcium channel type L alpha 1D subunit.
30) Exon sequencing of the latter group identified somatic mutations in either ATP1A1 or CACNA1D, which could suggest a common subtype of aldosterone-producing adenoma.
30,31) Another study identified somatic mutations (Gly403 and Ile770) in the CACNA1D gene, which encodes a voltage-gated calcium channel ([Ca.
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
hydronephrosis Imipramine ADRA18, ADRA1D Renal nephritis Imipramine TP53, NOS1, CTNS, ALB, NFKB2, VDR, PDE4D, PPP3CA, ACE Heart failure lmipramine EPO, NOS1, ATP1A3, CACNA1D, ACCN3, KCNG2, PDE4D, SLC9A1, TTN, ADRB3, KCNJ11, ADRA1D.