2024年12月24日 · CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D) is a Protein Coding gene. Diseases associated with CACNA1D include Sinoatrial Node Dysfunction And Deafness and Primary Aldosteronism, Seizures, And Neurologic Abnormalities. Among its related pathways are DREAM Repression and Dynorphin Expression and TCR Signaling (Qiagen).

The CACNA1D gene encodes calcium voltage-gated channel subunit alpha1 D, or subunit Cav1.3, primarily found in the postsynaptic regions of the brain (dendritic spines), inner hair cells, organ of Corti and heart.

钙通道类型的独特特性主要与各种 alpha-1 亚型 (即 alpha-1A、B、C、D、E 和 S) 的表达有关。 该基因编码 alpha-1D 亚基。 已发现该基因编码不同亚型的几种转录变体。 [RefSeq 提供，2012 年 12 月]

These channels transport positively charged calcium atoms (calcium ions) across cell membranes. The CACNA1D gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV1.3. This subunit forms the …

2025年2月8日 · CACNA1D mutations predominate in small zona glomerulosa (ZG)-like Aldosterone-producing Adenomas. The CACNA1C-L762F mutation is associated with development of long QT syndrome through slower channel inactivation and increased sustained and window current.

2023年3月22日 · CACNA1D, encoding Ca V 1.3 ion channels is upregulated in prostate cancer. Here we show how hormone therapy affects CACNA1D expression and Ca V 1.3 function. Human prostate cells (LNCaP, VCaP,...

CACNA1D encodes the pore-forming α 1 subunit of a voltage-gated calcium channel. These channels feature four homologous repeats (I–IV) with 6 transmembrane segments (S1-S6) and a membrane-associated loop between segments S5 and S6.

Gene ID: 12289, updated on 13-Jan-2025. This gene encodes a pore-forming subunit of the L-type, voltage-activated calcium channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart defects.

2023年11月23日 · Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression.

2024年3月29日 · De novo missense mutations in the gene of their pore-forming α1-subunit (CACNA1D) induce severe gating defects which lead to autism spectrum disorder and a more severe neurological disorder with...