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Gene Review

FTSJ1  -  FtsJ RNA methyltransferase homolog 1 (E....

Homo sapiens

Synonyms: 2'-O-ribose RNA methyltransferase TRM7 homolog, CDLIV, JM23, MRX44, MRX9, ...
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Disease relevance of FTSJ1


Psychiatry related information on FTSJ1

  • A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9) [2].

High impact information on FTSJ1

  • Cholesterol was modulated chemically or metabolically, and sphingolipids were modulated using a temperature-sensitive cell line (SPB-1) [3].
  • SPB-1, a Chinese hamster ovary cell variant defective in serine palmitoyltransferase activity for sphingolipid synthesis, provides a useful system for studying the effects of sphingolipids and/or cholesterol deprivation on cellular functions and membrane properties [4].
  • A mutant type III GBS strain lacking Spb1 was constructed in virulent RDP type III-3 strain 874391, and the interactions of the wild-type and spb1 isogenic mutant with a variety of epithelial cells important to GBS colonization and infection were compared [5].
  • Within one of these III-3-specific regions is a 1,506-bp open reading frame, spb1 (surface protein of group B streptococcus 1) [5].
  • Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome [6].

Biological context of FTSJ1

  • A recently performed refinement of the linkage interval in a large Belgian family with mild to severe non-syndromic X linked mental retardation, classified as MRX9, revealed a candidate region of 11.3 Mb between markers DXS228 and DXS1204 on the short arm of the X chromosome [2].
  • In this study, we performed linkage analysis of MRX9 with a panel of 43 polymorphic DNA markers dispersed over chromosome X. Two-point linkage analysis revealed lod scores of 3.52 and 3.82 at 0% recombination for OATL1 and MAOA, both located in Xp11.2-p11 [6].

Associations of FTSJ1 with chemical compounds

  • For this reason, the authors have adapted gas chromatography/negative ion chemical ionization mass spectrometry (GC/NICI-MS) (developed by Ramesha and Pickett in 1985) by employing an SPB-1 column and isobutane as the reagent gas [7].
  • The diesel fuel is extracted from the condensate with n-hexane, and the extract is analyzed on an SPB-1 fused silica capillary column [8].

Other interactions of FTSJ1

  • Among the genes included within the duplicated region, and particularly those which are outside copy number polymorphisms, we discuss the relationship of FTSJ1, PQBP1 and HDAC6 with the clinical symptoms of our patient [9].

Analytical, diagnostic and therapeutic context of FTSJ1

  • Their detection was possible using wide-bore capillary gas chromatography with SPB-1 and HP-17 wide-bore capillary columns with satisfactory separation from impurities [10].


  1. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Freude, K., Hoffmann, K., Jensen, L.R., Delatycki, M.B., des Portes, V., Moser, B., Hamel, B., van Bokhoven, H., Moraine, C., Fryns, J.P., Chelly, J., Gécz, J., Lenzner, S., Kalscheuer, V.M., Ropers, H.H. Am. J. Hum. Genet. (2004) [Pubmed]
  2. A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). Ramser, J., Winnepenninckx, B., Lenski, C., Errijgers, V., Platzer, M., Schwartz, C.E., Meindl, A., Kooy, R.F. J. Med. Genet. (2004) [Pubmed]
  3. Differential effects of modification of membrane cholesterol and sphingolipids on the conformation, function, and trafficking of the G protein-coupled cholecystokinin receptor. Harikumar, K.G., Puri, V., Singh, R.D., Hanada, K., Pagano, R.E., Miller, L.J. J. Biol. Chem. (2005) [Pubmed]
  4. Both sphingolipids and cholesterol participate in the detergent insolubility of alkaline phosphatase, a glycosylphosphatidylinositol-anchored protein, in mammalian membranes. Hanada, K., Nishijima, M., Akamatsu, Y., Pagano, R.E. J. Biol. Chem. (1995) [Pubmed]
  5. Subtractive hybridization identifies a novel predicted protein mediating epithelial cell invasion by virulent serotype III group B Streptococcus agalactiae. Adderson, E.E., Takahashi, S., Wang, Y., Armstrong, J., Miller, D.V., Bohnsack, J.F. Infect. Immun. (2003) [Pubmed]
  6. Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome. Willems, P., Vits, L., Buntinx, I., Raeymaekers, P., Van Broeckhoven, C., Ceulemans, B. Genomics (1993) [Pubmed]
  7. Quantitative analysis of platelet activating factor treated with pentafluorobenzoyl chloride using gas chromatography/negative ion chemical ionization mass spectrometry. Shindo, K., Hashimoto, Y. Drugs under experimental and clinical research. (1991) [Pubmed]
  8. Separation and determination of diesel contaminants in various fish products by capillary gas chromatography. Newton, J.M., Rothman, B.S., Walker, F.A. Journal - Association of Official Analytical Chemists. (1991) [Pubmed]
  9. Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization. Bonnet, C., Grégoire, M.J., Brochet, K., Raffo, E., Leheup, B., Jonveaux, P. J. Hum. Genet. (2006) [Pubmed]
  10. Positive and negative ion mass spectrometry and rapid isolation with Sep-Pak C18 cartridges of ten local anaesthetics. Seno, H., Suzuki, O., Kumazawa, T., Hattori, H. Forensic Sci. Int. (1991) [Pubmed]
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