RSK2 Antibodies, cDNA Clones Research Reagents

RPS6KA3 (Ribosomal Protein S6 Kinase A3, also known as CLS; RSK; HU-3; RSK2; MRX19; ISPK-1; p90-RSK2; pp90RSK2; MAPKAPK1B; S6K-alpha3), located on Xp22.12, is a Protein Coding gene. The gene produces an 83736 Da protein composed of 740 amino acids. Mutations in the RPS6KA3 gene are extremely heterogeneous and lead to premature termination of translation and/or to loss of phosphotransferase activity of the RSK2 protein. Diseases such as Coffin-Lowry Syndrome and Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers are associated with RPS6KA3.

RSK2 Antibody (2)

    RSK2 cDNA Clone (15)

    NM_004586.2

    クローニングベクター cDNA 製品

    In lentiviral vector

    RSK2 qPCR Primer (1)

    RSK2 の背景知識

    Coffin-Lowry syndrome (CLS) is a rare X-linked dominant disorder characterized by intellectual disability, craniofacial abnormalities, short stature, tapering fingers, hypotonia, and skeletal malformations. CLS is caused by mutations in the Ribosomal Protein S6 Kinase, 90 kDa, Polypeptide 3 (RPS6KA3) gene located at Xp22.12, which encodes Ribosomal S6 Kinase 2 (RSK2). This gene encodes for a growth factor-regulated serine/threonine-protein kinase, RSK2 (ribosomal S6 kinase 2), acting in the Ras-mitogen-activated protein kinase signaling pathway. Mutations in the RPS6KA3 gene are extremely heterogeneous and lead to premature termination of translation and/or to loss of phosphotransferase activity of the RSK2 protein. Screening for RSK2 mutations is essential in most cases to confirm the diagnosis as well as for genetic counseling. This gene also affects nonsyndromic X-linked ID and nonsyndromic X-linked ID without bony abnormalities.

    RSK2 の参考文献

    • Nishimoto HK, et al. (2014) The historical coffin-lowry syndrome family revisited: Identification of two novel mutations of rps6ka3 in three male patients. Am J Med Genet A 164a (9): 2172-2179.
    • Matsumoto A, et al. (2013) An xp22.12 microduplication including rps6ka3 identified in a family with variably affected intellectual and behavioral disabilities. J Hum Genet 58 (11): 755-757.
    • Delaunoy JP, et al. (2006) Identification of novel mutations in the rsk2 gene (rps6ka3) in patients with coffin-lowry syndrome. Clin Genet 70 (2): 161-166.

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