Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitogen-activated protein kinase 8-interacting protein 1

The MAPK8IP1 gene encodes a protein that regulates beta cell function. Mutations cause a susceptibility to diabetes type 2 in a dominant fashion.

Genetests:

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

Related Diseases:

Hereditary susceptibility to diabetes
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1

References:

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 [^]
12.

Wikipedia article

Wikipedia EN (MAPK8IP1) [^]
Update: April 29, 2019