Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
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.

external link
3.

Yasuda J et al. (1999) The JIP group of mitogen-activated protein kinase scaffold proteins.

external link
4.

Waeber G et al. (2000) The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes.

external link
5.

Bonny C et al. (2000) IB1 reduces cytokine-induced apoptosis of insulin-secreting cells.

external link
6.

Thompson NA et al. (2001) Islet-brain1/JNK-interacting protein-1 is required for early embryogenesis in mice.

external link
7.

Whitmarsh AJ et al. (2001) Requirement of the JIP1 scaffold protein for stress-induced JNK activation.

external link
8.

Abderrahmani A et al. (2001) The transcriptional repressor REST determines the cell-specific expression of the human MAPK8IP1 gene encoding IB1 (JIP-1).

external link
9.

Jaeschke A et al. (2004) An essential role of the JIP1 scaffold protein for JNK activation in adipose tissue.

external link
10.

NCBI article

NCBI 9479 external link
11.

OMIM.ORG article

Omim 604641 external link
12.

Wikipedia article

Wikipedia EN (MAPK8IP1) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues