该基因位于X染色体上,是编码四肽重复序列(TPR)蛋白的Y连锁基因的相应位点。该基因的编码蛋白包含一个JMJC结构域,并催化三/二甲基化组蛋白H3的去甲基化。已发现该基因的多个选择性剪接转录变体。
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene.

基因名:KDM6A
别名:KABUK2,UTX,bA386N14.2
基因ID:7403
Chromosome:
(GRCh37)
X Start: 44732757 End: 44971847 Strand: 1
信号通路: 组蛋白修饰  基因组不稳定  肿瘤干细胞