TSPYL1基因突变因子与药物介绍
该基因编码的蛋白质存在于核仁中,与Y染色体上的一个基因家族相似。这个基因是不内含的。这种基因的缺陷是导致婴儿猝死并伴有睾丸发育不全综合征(SIDDT)的原因。
The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT).
推荐