Sterile alpha motif domain-containing protein 9 is a 1,589-amino-acid protein encoded by the SAMD9 gene.[3] This cytoplasmic protein is a tumor suppressor that has a role in cell proliferation and the innate immune response to viral infection. Like its paralog, SAMD9-like (SAMD9L) protein,[4] its N-terminus contains a sterile alpha motif (SAM).
AliasesSAMD9, C7orf5, DRIF1, NFTC, OEF1, OEF2, sterile alpha motif domain containing 9, MIRAGE, M7MLS2 Quick facts Identifiers, Aliases ...
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Deleterious mutations of this gene cause normophosphatemic familial tumoral calcinosis (NFTC).[4] On the other hand, mutations that increase the activity of SAMD9 cause myelodysplasia, infection, restriction of growth, adrenal hypoplasia (small adrenal glands with diminished function), genital phenotypes, and enteropathy (MIRAGE) syndrome.[5] This can lead to loss of chromosome 7 as described for monosomy 7 and myelodysplastic syndrome and leukemia syndrome-2 (M7MLS2).[6] Loss of chromosome 7/7q may be an adaptation to a growth restriction inherent in SAMD9/9L mutant cells.[7]
