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🧬 基因注释:HNRNPA1

📝 官方信息

官方名称:heterogeneous nuclear ribonucleoprotein A1

功能摘要:This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016].

🎯 作为靶基因的剪接因子
🏥 关联疾病
amyotrophic lateral sclerosis
(0.641)
chronic progressive multiple sclerosis
(0.511)
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(0.510)
Finnish upper limb-onset distal myopathy
(0.481)
amyotrophic lateral sclerosis type 20
(0.432)
🔍 查看该基因的所有关联疾病
🔗 外部数据库链接