Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

SPRY2-Gen

Das SPRY2-Gen kodiert ein Protein, dass in verschiedene Transduktionsprozesse eingebunden ist. Mutationen führen zur autosomal dominanten IgA-Nephropathie vom Typ 3.

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:

IgA-Nephropathie Typ 3
SPRY2

Referenzen:

1.

Milillo A et al. (2015) A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.

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2.

Hacohen N et al. (1998) sprouty encodes a novel antagonist of FGF signaling that patterns apical branching of the Drosophila airways.

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3.

Lim J et al. (2000) Sprouty proteins are targeted to membrane ruffles upon growth factor receptor tyrosine kinase activation. Identification of a novel translocation domain.

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4.

Gross I et al. (2001) Mammalian sprouty proteins inhibit cell growth and differentiation by preventing ras activation.

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5.

Yusoff P et al. (2002) Sprouty2 inhibits the Ras/MAP kinase pathway by inhibiting the activation of Raf.

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6.

Egan JE et al. (2002) The bimodal regulation of epidermal growth factor signaling by human Sprouty proteins.

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7.

Lim J et al. (2002) The cysteine-rich sprouty translocation domain targets mitogen-activated protein kinase inhibitory proteins to phosphatidylinositol 4,5-bisphosphate in plasma membranes.

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8.

Hanafusa H et al. (2002) Sprouty1 and Sprouty2 provide a control mechanism for the Ras/MAPK signalling pathway.

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9.

Ding W et al. (2003) Functional analysis of the human Sprouty2 gene promoter.

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10.

Shim K et al. (2005) Sprouty2, a mouse deafness gene, regulates cell fate decisions in the auditory sensory epithelium by antagonizing FGF signaling.

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11.

Taketomi T et al. (2005) Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia.

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12.

Klein OD et al. (2006) Sprouty genes control diastema tooth development via bidirectional antagonism of epithelial-mesenchymal FGF signaling.

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13.

Metzger RJ et al. (2008) The branching programme of mouse lung development.

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14.

Tang N et al. (2011) Control of mitotic spindle angle by the RAS-regulated ERK1/2 pathway determines lung tube shape.

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15.

NCBI article

NCBI 10253 external link
16.

OMIM.ORG article

Omim 602466 external link
Update: 14. August 2020
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