2024年12月24日 · CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A) is a Protein Coding gene. Diseases associated with CACNA1A include Spinocerebellar Ataxia 6 and …

Suggestive features of a CACNA1A-related disorder include a severe hemiplegic migraine event, ataxia and eye movement disorders in an individual with seizures or developmental delay, or a …

钙电压门控通道亚基 alpha1 A： 电压依赖性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以及基因表达。钙通道是由 alpha-1 …

We report 47 individuals with 33 unique likely pathogenic or pathogenic CACNA1A variants. A machine learning method, funNCion, was used to predict loss-of-function (LoF)/gain-of …

2015年3月26日 · CACNA1A is a gene that plays a vital role in the communication between neurons in the brain. It is located on the short arm of chromosome 19 at position 13.13 and …

CACNA1A is a very large gene on the 19th chromosome. Variations in this gene can cause neurodegenerative disease and a variety of neurological symptoms including… CACNA1A …

The CACNA1A gene belongs to a family of genes that provide instructions for making calcium channels. These channels, which transport positively charged calcium atoms (calcium ions) …

CACNA1A位于染色体19p13.13，编码组成P/Q型或CaV2.1电压门控钙通道的孔道形成蛋白alpha-1A亚单位 。 电压依赖性钙通道广泛分布于脑和神经肌肉接头处的神经末梢等部位，该通道不 …

CACNA1A: The CACNA1A gene, located on chromosome 19p13.1, encodes the alpha-1A subunit of VGCCs. This element is predominantly expressed in neurons, particularly in the cerebellum, …

A classical gene associated to paroxysmal movement disorders is CACNA1A, which codes for the pore-forming subunit of the neuronal calcium channel P/Q. Non-polyglutamine CACNA1A …