RPS6KA3 Gene - GeneCards | KS6A3 Protein | KS6A3 Antibody
2024年12月25日 · RPS6KA3 (Ribosomal Protein S6 Kinase A3) is a Protein Coding gene. Diseases associated with RPS6KA3 include Coffin-Lowry Syndrome and Intellectual …
RPS6KA3 - Wikipedia
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 …
RPS6KA3-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf
2002年7月16日 · The phenotypic spectrum associated with RPS6KA3 pathogenic variants is a continuum. Coffin-Lowry syndrome (CLS) classically manifests in males with developmental …
核糖体蛋白 S6 激酶多肽 3（Rps6ka3）基因 | MCE
以多种结构表达，包括消化系统；胚泡;鳃弓;中枢神经系统;和眼睛。 用于研究 Coffin-Lowry 综合症。 该基因的人类直系同源物与 Coffin-Lowry 综合征有关；智力残疾;和非综合征性 X 连锁智力 …
一个Coffin-Lowry综合征家系的RPS6KA3基因变异分析 - 中华医学 …
目的 对1个Coffin-Lowry综合征家系进行 RPS6KA3 基因检测，以明确其遗传学病因。
RPS6KA3 ribosomal protein S6 kinase A3 [ (human)]
RPS6KA3 gene duplications are associated with X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication. findings establish RSK2 as an …
RPS6KA3 gene: MedlinePlus Genetics
The RPS6KA3 gene provides instructions for making a protein that is part of a family called ribosomal S6 kinases (RSKs). Learn about this gene and related health conditions.
RIBOSOMAL PROTEIN S6 KINASE A3; RPS6KA3 - OMIM
The RPS6KA3 gene encodes a member of the RSK (ribosomal S6 kinase) family of growth factor-regulated serine/threonine kinases, known also as p90 (rsk). RSK proteins contain 2 functional …
人RPS6KA3基因及蛋白质的生物信息学分析 - swxzz.com
与RPS6KA3相互作用的蛋白主要是MAPK信号途径相关蛋白、mTOR信号途径相关蛋白及蛋白合成相关蛋白等。 分析结果为进一步研究RPS6KA3在生命过程中的作用提供重要信息。
肝货 | 肝癌基因组测序研究小结_调节 - 搜狐
2019年10月31日 · RPS6KA3通过p53和ATM的磷酸化影响p53介导的下游细胞事件以响应DNA损伤。 在约10％的肝癌中发现了复发性的RPS6KA3突变，其中一半的突变导致过早终止密码子。