Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Integrales Membranprotein 2B

Das ITM2B-Gen kodiert eine Membranprotein, welches als Amyloid-Vorläufer angesehen wird, weil nicht abbaubare Spaltprodukte sich bei verschiedenen neurodegenerativen Erkrankungen anreichern. Zwei autosomal dominante Erkrankungen können unterschieden werden den Britischen und den Dänischen Typ.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Zerebroarterielle Amyloidose vom Britischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Dänischen Typ
ITM2B

Referenzen:

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Audo I et. al. (2014) The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

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