SAMD9

Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF-alpha signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion.

Tumoral calcinosis, normophosphatemic, familial

NFTC

An uncommon, life-threatening disorder characterized by progressive deposition of calcified masses in cutaneous and subcutaneous tissues. Serum phosphate levels are normal. Clinical features include painful calcified ulcerative lesions and massive calcium deposition in the mid- and lower dermis, severe skin and bone infections, erythematous papular skin eruption in infancy, conjunctivitis, and gingivitis. NFTC shows a striking resemblance to acquired dystrophic calcinosis, in which tissue calcification occurs as a consequence of tissue injury/inflammation.

None

The disease is caused by variants affecting the gene represented in this entry.

MIRAGE syndrome

MIRAGE

A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.

None

The disease is caused by variants affecting the gene represented in this entry.

Monosomy 7 myelodysplasia and leukemia syndrome 2

M7MLS2

A hematologic disorder manifesting in early childhood and characterized by bone marrow dyspoiesis, pancytopenia, myelodysplastic syndrome or acute myelogenous leukemia, associated with monosomy 7 in the bone marrow. Disease severity is highly variable. Inheritance is autosomal dominant with incomplete penetrance.

None

The disease is caused by variants affecting the gene represented in this entry. Germline mutations in SAMD9 with a suppressive effect on the cell cycle are associated with somatic loss of the chromosome 7 harboring the mutant allele. This results in the deletion of several genes and predisposes to the development of myelodysplastic syndrome and acute myelogenous leukemia.

Widely expressed. Very low levels are detected in skeletal muscle. Not detected in brain. Down-regulated in aggressive fibromatosis, as well as in breast and colon cancers. Up-regulated in fibroblasts from patients with normophosphatemic tumoral calcinosis (NFTC).

• Cytoplasm

C7orf5, DRIF1, KIAA2004, OEF1, SAMD9, Sterile alpha motif domain-containing protein 9, SAM domain-containing protein 9

• entrezGene:54809
• omim:610456
• swissprot:Q5K651

Proteins

184281Da