Gene Symbol | SAMD9 |
Entrez Gene ID | 54809 |
Full Name | sterile alpha motif domain containing 9 |
Synonyms | C7orf5,DRIF1,MIRAGE,NFTC,OEF1,OEF2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Tumoral calcinosis, familial, normophosphatemic, 610455 (3); MIRAGE syndrome, 617053 (3) |