SAMD9
Identifiers
AliasesSAMD9, C7orf5, DRIF1, NFTC, OEF1, OEF2, sterile alpha motif domain containing 9, MIRAGE, M7MLS2
External IDsOMIM: 610456 HomoloGene: 75072 GeneCards: SAMD9
Orthologs
SpeciesHumanMouse
Entrez

54809

n/a

Ensembl

ENSG00000205413

n/a

UniProt

Q5K651

n/a

RefSeq (mRNA)

NM_017654
NM_001193307

n/a

RefSeq (protein)

NP_001180236
NP_060124

n/a

Location (UCSC)Chr 7: 93.1 – 93.12 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Sterile alpha motif domain-containing protein 9 is a 1,589-amino-acid protein encoded by the SAMD9 gene.[3] This cytoplasmic protein is a tumor suppressor that has a role in cell proliferation and the innate immune response to viral infection. Like its paralog, SAMD9-like (SAMD9L) protein,[4] its N-terminus contains a sterile alpha motif (SAM).

Deleterious mutations of this gene cause normophosphatemic familial tumoral calcinosis (NFTC).[4] On the other hand, mutations that increase the activity of SAMD9 cause myelodysplasia, infection, restriction of growth, adrenal hypoplasia (small adrenal glands with diminished function), genital phenotypes, and enteropathy (MIRAGE) syndrome.[5] This can lead to loss of chromosome 7 as described for monosomy 7 and myelodysplastic syndrome and leukemia syndrome-2 (M7MLS2).[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000205413 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Entrez Gene: SAMD9 sterile alpha motif domain containing 9".
  4. 1 2 Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, et al. (October 2006). "A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis". American Journal of Human Genetics. 79 (4): 759–764. doi:10.1086/508069. PMC 1592555. PMID 16960814.
  5. Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, et al. (July 2016). "SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7". Nature Genetics. 48 (7): 792–797. doi:10.1038/ng.3569. PMID 27182967. S2CID 13270706.
  6. Schwartz JR, Wang S, Ma J, Lamprecht T, Walsh M, Song G, et al. (August 2017). "Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome". Leukemia. 31 (8): 1827–1830. doi:10.1038/leu.2017.142. PMC 5540771. PMID 28487541.

Further reading

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