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TBX3基因编码的功能和结构描述

2022.8.23

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。

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. 

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