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

Disintegrin and metalloproteinase domain-containing protein 17

The ADAM17 gene encodes an ADAM protein (disintegrin and metalloprotease domain-containig) wich is involved in cell and cell matrix interactions. Mutation cause a prediposition to autoinflammatory diseases such as neanatal inflammatory skin and bowel disease type 1.

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:

Neonatal inflammatory skin and bowel disease type 1
ADAM17

References:

1.

Mohan MJ et al. (2002) The tumor necrosis factor-alpha converting enzyme (TACE): a unique metalloproteinase with highly defined substrate selectivity.

external link
2.

Künzel U et al. (2018) FRMD8 promotes inflammatory and growth factor signalling by stabilising the iRhom/ADAM17 sheddase complex.

external link
3.

Oikonomidi I et al. (2018) iTAP, a novel iRhom interactor, controls TNF secretion by policing the stability of iRhom/TACE.

external link
4.

Brooke MA et al. (2014) iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.

external link
5.

McIlwain DR et al. (2012) iRhom2 regulation of TACE controls TNF-mediated protection against Listeria and responses to LPS.

external link
6.

Adrain C et al. (2012) Tumor necrosis factor signaling requires iRhom2 to promote trafficking and activation of TACE.

external link
7.

Blaydon DC et al. (2011) Inflammatory skin and bowel disease linked to ADAM17 deletion.

external link
8.

Chen CD et al. (2007) Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17.

external link
9.

Horiuchi K et al. (2007) Cutting edge: TNF-alpha-converting enzyme (TACE/ADAM17) inactivation in mouse myeloid cells prevents lethality from endotoxin shock.

external link
10.

Asai M et al. (2003) Putative function of ADAM9, ADAM10, and ADAM17 as APP alpha-secretase.

external link
11.

Black RA et al. (1997) A metalloproteinase disintegrin that releases tumour-necrosis factor-alpha from cells.

external link
12.

Garton KJ et al. (2001) Tumor necrosis factor-alpha-converting enzyme (ADAM17) mediates the cleavage and shedding of fractalkine (CX3CL1).

external link
13.

Brou C et al. (2000) A novel proteolytic cleavage involved in Notch signaling: the role of the disintegrin-metalloprotease TACE.

external link
14.

Nelson KK et al. (1999) Evidence for an interaction of the metalloprotease-disintegrin tumour necrosis factor alpha convertase (TACE) with mitotic arrest deficient 2 (MAD2), and of the metalloprotease-disintegrin MDC9 with a novel MAD2-related protein, MAD2beta.

external link
15.

Peschon JJ et al. (1998) An essential role for ectodomain shedding in mammalian development.

external link
16.

Hirohata S et al. (1998) Chromosomal assignment of two ADAM genes, TACE (ADAM17) and MLTNB (ADAM19), to human chromosomes 2 and 5, respectively, and of Mltnb to mouse chromosome 11.

external link
17.

Yamazaki K et al. (1998) Genetic mapping of mouse tumor necrosis factor-alpha converting enzyme (TACE) to chromosome 12.

external link
18.

Patel IR et al. (1998) TNF-alpha convertase enzyme from human arthritis-affected cartilage: isolation of cDNA by differential display, expression of the active enzyme, and regulation of TNF-alpha.

external link
19.

Moss ML et al. (1997) Cloning of a disintegrin metalloproteinase that processes precursor tumour-necrosis factor-alpha.

external link
20.

Diwan A et al. (2004) Targeted overexpression of noncleavable and secreted forms of tumor necrosis factor provokes disparate cardiac phenotypes.

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