Extrazelluläres Matrixprotein FRAS1
Das FRAS1-Gen kodiert eine extrazelluläres Matrixprotein, welches eine wichtige Rolle bei der Adhäsion an der Basalmembran währen der Ontogenese zu spielen scheint. Mutationen sind für das autosomal rezessive Fraser-Syndrom verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Kiyozumi D et al. (2006) Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.
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2. |
Darling S et al. (1994) A mouse model for Fraser syndrome?
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3. |
McGregor L et al. (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
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4. |
Vrontou S et al. (2003) Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.
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5. |
Slavotinek A et al. (2006) Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
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6. |
Cavalcanti DP et al. (2007) Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.
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7. |
van Haelst MM et al. (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review.
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8. |
Petrou P et al. (2005) Basement membrane distortions impair lung lobation and capillary organization in the mouse model for fraser syndrome.
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9. |
Pitera JE et al. (2008) Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.
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10. |
Orphanet article
Orphanet ID 121922
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11. |
NCBI article
NCBI 80144
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12. |
OMIM.ORG article
Omim 607830
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Update: 14. August 2020