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IFITM5 (11p15.5)

Also known as

OI5; BRIL; DSPA1; Hrmp1; fragilis4;  osteogenesis imperfecta tyyppi 5

Summary

This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]

Expression

Low expression observed in reference dataset See more

Preferred Names

interferon-induced transmembrane protein 5

Names

bone-restricted ifitm-like protein

bone-restricted interferon-induced transmembrane protein-like protein

dispanin subfamily A member 1

ORIGIN      
        1 mdtaypredt raptpskaga htaltlgaph ppprdhliws vfstlylnlc clgflalays
       61 ikardqkvvg dleaarrfgs kakcynilaa mwtlvpplll lglvvtgalh larlakdsaa
      121 ffstkfddad yd
//

1. The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. Lazarus S, et al. BMC Musculoskelet Disord, 2014 Mar 27. PMID 24674092, Free PMC Article
2. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Guillén-Navarro E, et al. Am J Med Genet A, 2014 May. PMID 24478195
3. A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset. Hoyer-Kuhn H, et al. J Bone Miner Res, 2014 Jun. PMID 24293101
4. Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. Zhang Z, et al. PLoS One, 2013. PMID 23977282, Free PMC Article
5. A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Takagi M, et al. Am J Med Genet A, 2013 Aug. PMID 23813632

IFITM10 (11p15.5) ,228 a.a. expr.  adrenal,   brain.

ORIGIN      
        1 mregkrgppc ilsfrgtler veaqweleaq gpgqcpaplg dpasttdgaq earvpldgaf
       61 wiprppagsp kgcfacvskp palqapaapa pepsasppma ptlfpmesks sktdsvraag
      121 appackhlae kktmtnpttv ievypdttev ndyylwsifn fvylnfcclg fialayslkv
      181 rdkkllndln gavedaktar lfnitssala asciilvfif lrypltdy