Mitogen-activated protein kinase-binding protein 1
The MAPKBP1 gene encodes a scaffold protein that is involved in signal transduction. Mutations cause autosomal recessive nephronophthisis type 20.
Genetests:
Related Diseases:
References:
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Macia MS et al. (2017) Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
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2. |
Koyano S et al. (1999) A novel Jun N-terminal kinase (JNK)-binding protein that enhances the activation of JNK by MEK kinase 1 and TGF-beta-activated kinase 1.
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3. |
Cohen-Katsenelson K et al. (2013) Identification and analysis of a novel dimerization domain shared by various members of c-Jun N-terminal kinase (JNK) scaffold proteins.
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Update: Aug. 14, 2020