菜单 基因医生

这个基因是一个系统学保守的基因家族的成员,该家族共享一个共同的dna结合域t-box。t-box基因编码参与发育过程调控的转录因子。这种蛋白是一种转录抑制因子,被认为在四足动物前肢的前/后轴起作用。该基因突变导致尺乳综合征,影响肢体、大汗腺、牙齿、头发和生殖器发育。该基因的选择性剪接导致三个转录变体编码不同的亚型;然而,一个变体的全长性质尚未确定。[由RefSeq提供,2008年7月]
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

基因名:TBX3
别名:UMS,XHL,TBX3-ISO
基因ID:6926
Chromosome:
(GRCh37)
12 Start: 115108059 End: 115121969 Strand: 
信号通路: 肿瘤干细胞 
TBX3 基因突变与药物