Aliases for SAMD9 Gene
External Ids for SAMD9 Gene
Previous HGNC Symbols for SAMD9 Gene
Previous GeneCards Identifiers for SAMD9 Gene
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.[provided by RefSeq, Jul 2010]
GeneCards Summary for SAMD9 Gene
SAMD9 (Sterile Alpha Motif Domain Containing 9) is a Protein Coding gene. Diseases associated with SAMD9 include Tumoral Calcinosis, Familial, Normophosphatemic and Mirage Syndrome. An important paralog of this gene is SAMD9L.
UniProtKB/Swiss-Prot for SAMD9 Gene
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.