RBM10

这个基因编码一个核蛋白,属于一个包含rna结合基序的家族蛋白。编码蛋白与hnrnp蛋白相关,可能参与调控选择性剪接。这个基因的缺陷是X连锁隐性遗传病,TARP综合征的原因。交替剪接导致多个转录变体。[由RefSeq提供,2011年3月]
This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]

别名

S1-1,TARPS,GPATC9,ZRANB5,GPATCH9,DXS8237E

基因id

Chromosome:X Start: 47004617 End: 47046214 Strand: 

药物

突变与药物

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