菜单 基因医生

该基因编码丝氨酸/苏氨酸激酶rsk(核糖体s6激酶)家族的一个成员。该激酶包含2个不同的激酶催化结构域,并磷酸化各种底物,包括丝裂原活化激酶(MAPK)信号通路的成员这种蛋白的活性与控制细胞的生长和分化有关。该基因突变与coffin-lowry综合征(cls)有关。[由RefSeq提供,2008年7月]
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]

基因名:RPS6KA3
别名:CLS,RSK,HU-3,RSK2,MRX19,ISPK-1,p90-RSK2,pp90RSK2,MAPKAPK1B,S6K-alpha3
基因ID:6197
Chromosome:
(GRCh37)
X Start: 20168029 End: 20285523 Strand: 
信号通路:  
RPS6KA3 基因突变与药物