基因名称：SBDS （SBDS ribosome maturation factor）
别名： SDS,SWDS,CGI-97
基因ID：51119
Chromosome(GRCh37) ：7 Start: 66452690 End: 66460588 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码一种高度保守的蛋白质，在核糖体的生物发生中起着重要作用。编码蛋白与gtpase 1等伸长因子相互作用，使真核起始因子6与晚期细胞质前60s核糖体亚基分离，从而组装80s亚基。该基因突变与常染色体隐性遗传疾病shwachman-bodian-diamond综合征有关。这个基因有一个紧密相连的假基因，位于远端。[由RefSeq提供，2017年1月]This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
SBDS突变与药物：
