Extrazelluläres Matrixprotein FREM1
Das FREM1-Gen kodiert ein extrazelluläres Matrixprotein welches an der Regulation der Ontogenese und der Immunantwort beteiligt ist. Mutationen führen zu autosomal rezessivem Fraser-Syndrom. Weiterhin sind Mutationen bei renalen Fehlbildungen beobachtet.
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. |
Al-Gazali LI et al. (2002) An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.
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3. |
Alazami AM et al. (2009) FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
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4. |
Slavotinek AM et al. (2011) Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
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5. |
None (2001) Micro-ablepharon of the upper eyelids and vaginal atresia.
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6. |
Li C et al. (2007) Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
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7. |
Vissers LE et al. (2011) Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
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8. |
Smyth I et al. (2004) The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.
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9. |
Hudson RC et al. (2012) Bioinformatics Analysis of the FREM1 Gene-Evolutionary Development of the IL-1R1 Co-Receptor, TILRR.
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10. |
Zhang X et al. (2012) Distinct control of MyD88 adapter-dependent and Akt kinase-regulated responses by the interleukin (IL)-1RI co-receptor, TILRR.
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11. |
Rhodes DM et al. (2015) Computational Modelling of NF-κB Activation by IL-1RI and Its Co-Receptor TILRR, Predicts a Role for Cytoskeletal Sequestration of IκBα in Inflammatory Signalling.
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12. |
OMIM.ORG article
Omim 608944
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13. |
Orphanet article
Orphanet ID 220909
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14. |
NCBI article
NCBI 158326
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Update: 14. August 2020