RPS6KA3基因突变因子与药物介绍
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]
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