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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CalbindinD28k, NM_031984.1, UPL Probe #128 (Roche 04693647001); Parvalbumin, NM_022499.1, UPL Probe #49 (Roche 04688104001); Grin1 NM_001270602.1 UPL Probe #69 (Roche 04688686001); Grin2a NM_012573.3 UPL Probe #66 (Roche 04688651001); Grin2b NM_012574.1 UPL Probe # 29 (Roche 04687612001); Grin2c NM_012575.3 UPL Probe #106 (Roche 04692250001); Grin2d NM_022797.1 UPL Probe #4 (Roche 04685016001); Grin3a NM_001198583.1 UPL Probe #105 (Roche 04692241001) CACNA1C, NM_012517.2, UPL Probe #73 (Roche 04688961001); CACNA1D, NM_017298.1, UPL Probe #82 (Roche 04689054001).
A few important genes included in this list are OXT, GRIN1, CHAT, and CACNA1D which are potential regulators of neurophysiological processes and have a high degree of implication in psychological disorders.
Expression of Cacna1d (3-fold), Cacna1g, Cacna1h (4-fold), Cacna2d1, Cacna2d3, and Cacng4 (3-fold) were downregulated in GK compared to control SAN.
Bidirectional Sanger sequencing was performed for targeted mutation detection in the KCNJ5, ATP1A1, ATP2B3, CACNA1D, CACNA1H, and PRKACA genes using DNA extracted from the tumor tissues of the 22 A/CPA patients.
k) Mutations in CACNA1D and CHI (Single Case Report)
3 regulates insulin release and polymorphisms in CACNA1D associate with type 2 diabetes.
This work then led to the discovery of various plasma membrane channel mutations [sodium/potassium-transporting ATPase subunit alpha-1 (ATP1A1), plasma membrane calcium-transporting ATPase 3 (ATP2B3), and voltage-dependent calcium channel type L alpha 1D subunit (CACNA1D)] in other APAs.
During the past 2 years, considerable interest has been generated by the discovery of sporadic mutations in potassium channels (KCNJ5), calcium channels (CACNA1D), and ATPases (ATP1A1 and ATP2B3; Figure 2, C).
Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
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.
Mendelian forms of hypertension and germline mutations causing early-onset hypertension have highlighted biological pathways that involve renal salt handling (WNK1, WNK4, KLHL3, and CUL3), ion transport (CACNA1D, CACNA1H, KCNJ5, SCNN1B, and SCNN1G), corticosteroidogenesis (CYP11B2, HSD11B2, NR3C2, CYP11B1, and CYP17A1), and vascular tone (PDE3A) to regulate blood [41-44].
For example, clinical studies have demonstrated overexpression of CACNA1D ([Ca.sub.v]1.3) (L type), CACNA1A ([Ca.sub.v]2.1) (P/Q type), and CACNA1G ([Ca.sub.v]3.1) (T type) in lung cancer, and overexpression of CACNA1A ([Ca.sub.v]2.1) was associated with poor prognosis [15].