Mitogen-activierte Proteinkinase 8-interagierendes Protein 1
Das MAPK8IP1-Gen kodiert ein einen Regulator der beta-Zellfunktion. Mutationen rufen eine dominant vererbte Diabetes Typ 2-Neigung hervor.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Taru H et al. (2002) Differential roles of JIP scaffold proteins in the modulation of amyloid precursor protein metabolism.
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2. |
Mooser V et al. (1999) Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene.
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3. |
Yasuda J et al. (1999) The JIP group of mitogen-activated protein kinase scaffold proteins.
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4. |
Waeber G et al. (2000) The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes.
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5. |
Bonny C et al. (2000) IB1 reduces cytokine-induced apoptosis of insulin-secreting cells.
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6. |
Thompson NA et al. (2001) Islet-brain1/JNK-interacting protein-1 is required for early embryogenesis in mice.
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7. |
Whitmarsh AJ et al. (2001) Requirement of the JIP1 scaffold protein for stress-induced JNK activation.
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8. |
Abderrahmani A et al. (2001) The transcriptional repressor REST determines the cell-specific expression of the human MAPK8IP1 gene encoding IB1 (JIP-1).
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9. |
Jaeschke A et al. (2004) An essential role of the JIP1 scaffold protein for JNK activation in adipose tissue.
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10. |
NCBI article
NCBI 9479
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11. |
OMIM.ORG article
Omim 604641
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Update: 14. August 2020