MTX1
| MTX1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MTX1, MTX, MTXN, metaxin 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 600605; MGI: 103025; GeneCards: MTX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Metaxin 1, also known as MTX1, is a protein which in humans is encoded by the MTX1 gene.[5][6]
Function
[edit]The metaxin gene, which encodes a protein located on the outer membrane of mitochondria, is a component of the mitochondrial protein translocation apparatus.[7]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000173171 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000064068 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: MTX1 metaxin 1".
- ↑ Bornstein P, McKinney CE, LaMarca ME, Winfield S, Shingu T, Devarayalu S, Vos HL, Ginns EI (May 1995). "Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease". Proc. Natl. Acad. Sci. U.S.A. 92 (10): 4547–51. Bibcode:1995PNAS...92.4547B. doi:10.1073/pnas.92.10.4547. PMC 41981. PMID 7753840.
- ↑ Armstrong LC, Komiya T, Bergman BE, Mihara K, Bornstein P (March 1997). "Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion". J. Biol. Chem. 272 (10): 6510–8. doi:10.1074/jbc.272.10.6510. PMID 9045676.
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Further reading
[edit]- Bornstein P, McKinney CE, LaMarca ME, et al. (1995). "Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease". Proc. Natl. Acad. Sci. U.S.A. 92 (10): 4547–51. Bibcode:1995PNAS...92.4547B. doi:10.1073/pnas.92.10.4547. PMC 41981. PMID 7753840.
- Long GL, Winfield S, Adolph KW, et al. (1997). "Structure and organization of the human metaxin gene (MTX) and pseudogene". Genomics. 33 (2): 177–84. doi:10.1006/geno.1996.0181. PMID 8660965.
- Armstrong LC, Komiya T, Bergman BE, et al. (1997). "Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion". J. Biol. Chem. 272 (10): 6510–8. doi:10.1074/jbc.272.10.6510. PMID 9045676.
- Winfield SL, Tayebi N, Martin BM, et al. (1997). "Identification of Three Additional Genes Contiguous to the Glucocerebrosidase Locus on Chromosome 1q21: Implications for Gaucher Disease". Genome Res. 7 (10): 1020–6. doi:10.1101/gr.7.10.1020. PMC 310674. PMID 9331372.
- Armstrong LC, Saenz AJ, Bornstein P (1999). "Metaxin 1 interacts with metaxin 2, a novel related protein associated with the mammalian mitochondrial outer membrane". J. Cell. Biochem. 74 (1): 11–22. doi:10.1002/(SICI)1097-4644(19990701)74:1<11::AID-JCB2>3.0.CO;2-V. PMID 10381257. S2CID 38802766.
- Abdul KM, Terada K, Yano M, et al. (2000). "Functional analysis of human metaxin in mitochondrial protein import in cultured cells and its relationship with the Tom complex". Biochem. Biophys. Res. Commun. 276 (3): 1028–34. doi:10.1006/bbrc.2000.3589. PMID 11027586.
- Wang X, Ono K, Kim SO, et al. (2001). "Metaxin is required for tumor necrosis factor-induced cell death". EMBO Rep. 2 (7): 628–33. doi:10.1093/embo-reports/kve135. PMC 1083949. PMID 11454742.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- LaMarca ME, Goldstein M, Tayebi N, et al. (2004). "A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease". J. Hum. Genet. 49 (4): 220–2. doi:10.1007/s10038-004-0134-7. PMID 15024629.
- Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- Kozjak-Pavlovic V, Ross K, Benlasfer N, et al. (2007). "Conserved roles of Sam50 and metaxins in VDAC biogenesis". EMBO Rep. 8 (6): 576–82. doi:10.1038/sj.embor.7400982. PMC 2002532. PMID 17510655.
- Xie J, Marusich MF, Souda P, et al. (2007). "The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11". FEBS Lett. 581 (18): 3545–9. doi:10.1016/j.febslet.2007.06.052. PMID 17624330.
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