SNURF - SNRPN upstream open reading frame Gene

中文名称：SNRPN 上游开放阅读框

种属: Homo sapiens

关于 SNURF

功能概要

该基因位于 15 号染色体上的 Prader-Willi 综合症关键区域内。由该基因产生的转录本起始于印记中心，并带有父系印记。这些转录物可能是双顺反子的，并且还编码来自下游开放阅读框的 SNRPN (小核糖核蛋白多肽 N) 。该基因代表的小蛋白由进化上保守的上游开放阅读框编码，定位于细胞核。广泛的选择性剪接和启动子使用发生在该区域，并且尚未确定其中一些转录本的全长性质。印记中枢的改变与父母印记转换失败有关，这可能导致安格曼综合症或普瑞德威利综合症。[RefSeq 提供，2017 年 3 月]

This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]