SAMD9

This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.

Full Name

Sterile Alpha Motif Domain Containing 9

Function

Double-stranded nucleic acid binding that acts as a 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.

Biological Process

Endosomal vesicle fusion

Cellular Location

Cytoplasm

Involvement in disease

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.
MIRAGE syndrome (MIRAGE):
A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.
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.