2024年12月24日 · CACNA1G (Calcium Voltage-Gated Channel Subunit Alpha1 G) is a Protein Coding gene. Diseases associated with CACNA1G include Spinocerebellar Ataxia 42 and Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits .

Calcium channel, voltage-dependent, T type, alpha 1G subunit, also known as CACNA1G or Ca v 3.1 is a protein which in humans is encoded by the CACNA1G gene. [5] [6] [7] It is one of the primary targets in the pharmacology of absence seizure.

The CACNA1G gene encodes the calcium voltage-gated channel subunit alpha1 G, also known as subunit Cav3.1, primarily found in the postsynaptic regions of the cerebellum, hippocampus, thalamus, and heart.

2018年8月13日 · The CACNA1G gene encodes the low-voltage-activated Ca(v)3.1 T-type calcium channel. CACNA1G is highly expressed in Purkinje neurons and deep cerebellar nuclei (summary by Chemin et al., 2018). Low-voltage-activated calcium channels are referred to as 'T' type because their currents are both transient, owing to fast inactivation, and tiny, owing ...

The results of this study provide support for Cacna1g as a genetic modifier in a mouse model of Dravet syndrome and suggest that Cav3.1 may be a potential molecular target for therapeutic intervention in patients; CACNA1G variant is associated with differential antiepileptic drug response in childhood absence epilepsy.

2024年5月5日 · This review delves into the significance of the CACNA genes, including CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, and CACNA1H, in the pathogenesis of conditions such as migraine, epilepsy, …

电压敏感钙通道介导钙离子进入可兴奋细胞，并且还参与多种钙依赖性过程，包括肌肉收缩、激素或神经递质释放、基因表达、细胞运动、细胞分裂和细胞死亡。 该基因编码一个 T 型、低电压激活的钙通道。 由于快速失活，T 型通道产生的电流既是瞬态电流，又是由于小电导而产生的微小电流。 T 型通道被认为与起搏器活动、低阈值钙尖峰、神经元振荡和共振以及反弹爆发放电有关。 许多编码不同亚型的选择性剪接转录物变体已被描述用于该基因。 [RefSeq 提供，2011 年 9 月]

2025年1月5日 · Long non-coding RNA CACNA1G-AS1 promotes cell migration, invasion and epithelial-mesenchymal transition by HNRNPA2B1 in non-small cell lung cancer. A T-type channel-calmodulin complex triggers αCaMKII activation.

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. Molecular cloning and functional expression of Ca (v)3.1c, a T-type calcium channel from human brain.

2015年12月29日 · Results: In this study, we analyzed a Japanese family with autosomal dominant SCA using linkage analysis and exome sequencing, and identified CACNA1G, which encodes the calcium channel CaV3.1, as a new causative gene. The same mutation was also found in another family with SCA.