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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

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
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