Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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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.

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15.

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

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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.

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17.

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

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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.

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19.

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

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20.

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

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Update: Aug. 14, 2020
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