🧬 基因注释：NEFH
📝 官方信息
官方名称：neurofilament heavy chain
功能摘要：Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录