SBDS

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]

别名

SDS,SWDS,CGI-97

基因id

Chromosome:7 Start: 66452690 End: 66460588 Strand: 

药物

突变与药物

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相关基因检测

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