Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Erbliche Diabetesneigung
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1

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 [^]
11.

OMIM.ORG article

Omim 604641 [^]
Update: 29. April 2019