Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Fibroblasten-Wachstumsfaktor-Rezeptor 1

Das FGFR1-Gen kodiert einen Fibroblasten-Wachstumsfaktor-Rezeptor, der verschiedene Fibroblasten-Wachstumsfaktoren binden kann. Von besonderer Bedeutung ist der Faktor FGF23 der an proximalen Tubuluszellen zusammen mit Klotho eine Signalkaskade in Gang setzt die für die Steuerung der Phosphathomöostase immens wichtig ist. Aktivierende Mutationen führen zur autosomal dominanten Erkrankung der osteoglophonen Dysplasie. Weitere Erkrankungen, die mit Mutationen dieses Rezeptors in Verbindung gebracht werden sind Pfeiffer-Syndrom, Jackson-Weiss-Syndrom, Antley-Bixler-Syndrom.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Osteoglophone Dysplasie
FGFR1

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Orphanet article

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Update: 9. Mai 2019