SAM domain-containing protein 9
The SAMD9 gene encodes a cytoplasmatic protein that is involved in regulation of cell proliferation and apoptosis. Dominant mutations cause MIRAGE syndrome and resessive mutations are responsible for familial normophosphatemic tumoral calcinosis.
Genetests:
Related Diseases:
References:
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Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
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Topaz O et al. (2006) A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
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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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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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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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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: Aug. 14, 2020