FTSJ1 explained

Putative ribosomal RNA methyltransferase 1 is an enzyme that in humans is encoded by the FTSJ1 gene.^{[1] [2] [3]}

The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and may be involved in the processing and modification of rRNA. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene.^[4]

Further reading

• Mulley JC, Kerr B, Stevenson R, Lubs H . Nomenclature guidelines for X-linked mental retardation . Am. J. Med. Genet. . 43 . 1–2 . 383–91 . 1992 . 1605216 . 10.1002/ajmg.1320430159 .
• Willems P, Vits L, Buntinx I . Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome . Genomics . 18 . 2 . 290–4 . 1994 . 8288232 . 10.1006/geno.1993.1468 . etal.
• Hamel BC, Smits AP, van den Helm B . Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis . Am. J. Med. Genet. . 85 . 3 . 290–304 . 2000 . 10398246 . 10.1002/(SICI)1096-8628(19990730)85:3<290::AID-AJMG21>3.0.CO;2-H . etal.
• Pintard L, Kressler D, Lapeyre B . Spb1p is a yeast nucleolar protein associated with Nop1p and Nop58p that is able to bind S-adenosyl-L-methionine in vitro . Mol. Cell. Biol. . 20 . 4 . 1370–81 . 2000 . 10648622 . 10.1128/MCB.20.4.1370-1381.2000 . 85287 .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ropers HH, Hoeltzenbein M, Kalscheuer V . Nonsyndromic X-linked mental retardation: where are the missing mutations? . Trends Genet. . 19 . 6 . 316–20 . 2003 . 12801724 . 10.1016/S0168-9525(03)00113-6 . etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Ross MT, Grafham DV, Coffey AJ . The DNA sequence of the human X chromosome . Nature . 434 . 7031 . 325–37 . 2005 . 15772651 . 10.1038/nature03440 . 2665286 . 2005Natur.434..325R . etal.
• Froyen G, Bauters M, Boyle J . Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region . Hum. Genet. . 121 . 5 . 539–47 . 2007 . 17333282 . 10.1007/s00439-007-0343-1 . 24726611 . etal.

Notes and References

1. Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF . 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) . J Med Genet . 41 . 9 . 679–83 . Sep 2004 . 15342698 . 1735884 . 10.1136/jmg.2004.019000 .
2. Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S, Kalscheuer VM, Ropers HH . Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation . Am J Hum Genet . 75 . 2 . 305–9 . Aug 2004 . 15162322 . 1216064 . 10.1086/422507 .
3. Web site: Entrez Gene: FTSJ1 FtsJ homolog 1 (E. coli).
4. Web site: Entrez Gene: FTSJ1 FtsJ homolog 1 (E. coli).