该基因是smcy同系物家族的成员,编码一个干旱区、一个jmjc区、一个jmjn区和两个phd型锌指蛋白。DNA结合基序表明该蛋白参与转录和染色质重塑的调节。这种基因的突变与X连锁精神发育迟滞有关。选择性剪接导致多个转录变体。
This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternative splicing results in multiple transcript variants.

基因名:KDM5C
别名:DXS1272E,JARID1C,MRX13,MRXJ,MRXSCJ,MRXSJ,SMCX,XE169
基因ID:8242
Chromosome:
(GRCh37)
HG1433_PATCH Start: 52934321 End: 52968422 Strand: -1
信号通路: 组蛋白修饰  基因组不稳定 
靶向药: 依维莫司  舒尼替尼 
化疗药:
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