SAMD9
Sterile alpha motif domain-containing protein 9 is a protein that in humans is encoded by the SAMD9 gene.[3] Mutations in this gene cause MIRAGE syndrome.
| SAMD9 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | SAMD9, C7orf5, DRIF1, NFTC, OEF1, OEF2, sterile alpha motif domain containing 9, MIRAGE, M7MLS2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 610456 HomoloGene: 75072 GeneCards: SAMD9 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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References
- GRCh38: Ensembl release 89: ENSG00000205413 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: SAMD9 sterile alpha motif domain containing 9".
Further reading
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E (October 2006). "A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis". American Journal of Human Genetics. 79 (4): 759–64. doi:10.1086/508069. PMC 1592555. PMID 16960814.
- Li CF, MacDonald JR, Wei RY, Ray J, Lau K, Kandel C, Koffman R, Bell S, Scherer SW, Alman BA (April 2007). "Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse". BMC Genomics. 8: 92. doi:10.1186/1471-2164-8-92. PMC 1855325. PMID 17407603.
- Dereure O (May 2007). "[SAMD9 mutation in normophosphatemic familial tumoral calcinosis]". Annales de Dermatologie et de Vénéréologie. 134 (5 Pt 1): 505. doi:10.1016/S0151-9638(07)89230-1. PMID 17507861.
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