菜单 基因医生

该基因编码一个转录因子,抑制gata调节基因并与一个dynein轻链蛋白结合。编码蛋白与动力蛋白轻链蛋白的结合影响与GATA一致序列的结合并抑制其转录活性该基因缺陷是I-III型毛犀指骨综合征(TRPS)的原因。[由Refseq提供,2008年7月]
This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

基因名:TRPS1
别名:GC79,LGCR
基因ID:7227
Chromosome:
(GRCh37)
8 Start: 116420724 End: 116713299 Strand: 
信号通路:  
TRPS1 基因突变与药物