🧬 基因注释：PRPH
📝 官方信息
官方名称：peripherin
功能摘要：This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008].
🏥 关联疾病
该基因暂无关联疾病记录