Amilorid-sensitive Aminoxidase
Das DAO-Gen kodiert ein membrangebundenes Glykoprotein welches für den Histaminabbau verantwortlich ist. Funktionsstörungen in diesem Enzym werden mit der Histamin-Intoleranz in Verbindung gebracht.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Barbry P et al. (1990) Human kidney amiloride-binding protein: cDNA structure and functional expression.
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2. |
Barbry P et al. (1990) Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families.
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3. |
Novotny WF et al. (1994) Diamine oxidase is the amiloride-binding protein and is inhibited by amiloride analogues.
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4. |
Chassande O et al. (1994) The human gene for diamine oxidase, an amiloride binding protein. Molecular cloning, sequencing, and characterization of the promoter.
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5. |
Lingueglia E et al. (1993) Molecular cloning and functional expression of different molecular forms of rat amiloride-binding proteins.
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6. |
NCBI article
NCBI 26
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7. |
OMIM.ORG article
Omim 104610
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8. |
Wikipedia Artikel
Wikipedia DE (Diaminoxidase)
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Update: 14. August 2020