SAM-Domänen-Protein 9
Das SAMD9-Gen kodiert eine zytoplasmatisches Protein, weilches an der Regulation der Zellproliferation und -apoptose beteiligt ist. Dominante Mutation sind für das MIRAGE-Syndrome verantwortlich und rezessive Mutation führen zu familiären normophosphatämischen tumoralen Kalzinose.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
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2. |
Topaz O et al. (2006) A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
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3. |
Li CF et al. (2007) Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse.
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4. |
Chefetz I et al. (2008) Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
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5. |
Asou H et al. (2009) Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome.
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6. |
Narumi S et al. (2016) SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
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Update: 14. August 2020