Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Disintegrin- und Metalloproteinase-Domänen-Protein 17

Das ADAM17-Gen kodiert ein Mitglied der Familie der ADAM-Proteine (Disintegrin- und Metalloproteinase-Domäne) und ist als solches wahrscheinlich an der Zellen und der Zellmatrix Interaktion beteiligt. Autosomal rezessive Mutationen spiele bei der Pathogenese der neonatalen inflammatorischen Haut- und Darmerkrankung Typ 1 und weiteren autoinflammatorischen Erkrankungen eine Rolle.

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:

Neonatale enzündliche Haut- und Darmerkrankung Typ 1
ADAM17

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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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5.

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

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6.

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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7.

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

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8.

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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9.

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

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10.

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

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11.

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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12.

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

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13.

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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14.

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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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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Update: 17. Oktober 2019