SAM Domain-containing Protein 9-like
The SAMD9L gene encodes a cytoplasmic protein that acts as an tumor supressor and is involved in innate immunity. Mutations cause autosomal recessive Ataxia-pancytopenia syndrome and are also associated with various foms of leukemia, hepatocellular carcinoma and, normophosphatemic familial tumoral calcinosis.
Genetests:
Related Diseases:
References:
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de Jesus AA et al. (2020) Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
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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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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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Li FP et al. (1978) A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: association with bone marrow C-monosomy.
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Jiang Q et al. (2011) The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.
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6. |
Chen DH et al. (2016) Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
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Update: Aug. 14, 2020