Metaxin 1, also known as MTX1, is a protein which in humans is encoded by the MTX1gene.[1][2]
Function
The metaxin gene, which encodes a protein located on the outer membrane of mitochondria, is a component of the mitochondrial protein translocation apparatus.[3]
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. PMID8660965.
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. PMID9045676.
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. PMID11027586.
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. PMID15024629.
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. PMID17624330.