菜单 基因医生

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]