这个基因编码的蛋白质是一种同源框蛋白,类似于果蝇的“sine oculis”基因产物。该基因存在于14号染色体上的一组相关基因中,被认为与肢体发育有关。该基因缺陷是23型常染色体显性遗传性耳聋(dfna23)和3型鳃锁综合征(bos3)的病因。[由RefSeq提供,2008年7月]
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
基因名: | SIX1 |
别名: | BOS3,TIP39,DFNA23 |
基因ID: | 6495 |
Chromosome: (GRCh37) | 14 Start: 61111417 End: 61116155 Strand: |
信号通路: |