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🧬 基因注释:HNRNPA2B1

📝 官方信息

官方名称:heterogeneous nuclear ribonucleoprotein A2/B1

功能摘要:This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
🏥 关联疾病
oculopharyngeal muscular dystrophy 2
(0.582)
inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
(0.559)
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(0.503)
neurodegenerative disease
(0.472)
prostate adenocarcinoma
(0.372)
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