Adenosin-Deaminase 2
Das ADA2-Gen kodiert eine enzyme, eine Deaminase, welche das wichtige Regulatormolekül Adenosin verändert und damit in verschiedene Regulationsprozesse eingreift. Mutationen führen zu autosomal rezessiven Erkrankungen wie den ADA2-Mangel und das Sneddon-Syndrom.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Riazi MA et al. (2000) The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.
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2. |
Mascarenhas R et. al. () Familial Sneddon's syndrome.
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3. |
Zavialov AV et al. (2005) Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.
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4. |
Zavialov AV et al. (2010) Structural basis for the growth factor activity of human adenosine deaminase ADA2.
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5. |
Zhou Q et. al. (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2.
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6. |
Navon Elkan P et. al. (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
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7. |
Bras J et. al. (2014) Mutant ADA2 in vasculopathies.
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8. |
Van Montfrans JM et. al. (2016) Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
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9. |
None (2018) Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.
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Update: 14. August 2020