CACNA1G
CACNA1G: A Gateway to Understanding Neurological Disorders
Description
CACNA1G, also known as the calcium voltage-gated channel subunit alpha1G, is a crucial protein responsible for regulating the flow of calcium ions into cells. Calcium ions play a vital role in a wide range of cellular processes, including muscle contraction, nerve signaling, and gene expression. CACNA1G is predominantly found in the central nervous system and contributes to the function of neurons, particularly in regions involved in cognition, emotion, and sensory processing.
Associated Diseases
Mutations in the CACNA1G gene have been linked to several neurological disorders, including:
- Timothy Syndrome: A rare genetic disorder characterized by prolonged QT interval (a measure of the heart's electrical activity), autism spectrum disorder, and seizures.
- Episodic Ataxia Type 2: A condition causing recurrent episodes of muscle incoordination and weakness, primarily affecting the arms and legs.
- Generalized Epilepsy with Febrile Seizures Plus: A type of epilepsy characterized by febrile seizures (seizures triggered by fever) and other types of seizures.
- Autism Spectrum Disorder: CACNA1G mutations have been identified in individuals with autism spectrum disorder, contributing to the complex genetic basis of the condition.
Did you Know ?
Approximately 1 in 10,000 individuals are estimated to carry a mutation in the CACNA1G gene, making it one of the more common genes associated with neurological disorders.
