基因名称：HNRNPH1 （heterogeneous nuclear ribonucleoprotein H1）
别名： HNRPH,HNRPH1,hnRNPH
基因ID：3187
Chromosome(GRCh37) ：5 Start: 179041179 End: 179050722 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码广泛表达的异质核核糖核蛋白（hnrnps）亚家族的一个成员。hnrnps是与异质核rna复合的rna结合蛋白。这些蛋白质与细胞核中的前mrna相关，似乎影响前mrna的处理和mrna代谢和转运的其他方面。当所有的hnrnp都存在于细胞核中时，一些可能在细胞核和细胞质之间穿梭。hnrnp蛋白具有明显的核酸结合特性。该基因编码的蛋白质具有三个与rna结合的准rrm结构域重复，与hnrpf家族成员非常相似。该基因可能与遗传性淋巴水肿I型有关。另外，已描述了剪接转录变体[由Refseq提供，2012年3月]This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. 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 may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]
HNRNPH1突变与药物：
