Gene Symbol: Fktn
Description: fukutin
Alias: D830030O17Rik, Fcmd, fukutin, Fukuyama type congenital muscular dystrophy (fukutin), Fukuyama type congenital muscular dystrophy homolog
Species: mouse
Products:     Fktn

Top Publications

  1. Esapa C, Benson M, Schröder J, Martin Rendon E, Brockington M, Brown S, et al. Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet. 2002;11:3319-31 pubmed
    ..CMD and CMD type 1C (MDC1C) are caused by mutations in the genes encoding two putative glycosyltransferases, fukutin and fukutin-related protein (FKRP)...
  2. Taniguchi Ikeda M, Kobayashi K, Kanagawa M, Yu C, Mori K, Oda T, et al. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature. 2011;478:127-31 pubmed publisher
    ..In FCMD, the SVA insertion occurs in the 3' untranslated region (UTR) of the fukutin gene. The pathogenic mechanism for FCMD is unknown, and no effective clinical treatments exist...
  3. Chiyonobu T, Sasaki J, Nagai Y, Takeda S, Funakoshi H, Nakamura T, et al. Effects of fukutin deficiency in the developing mouse brain. Neuromuscul Disord. 2005;15:416-26 pubmed
    ..congenital muscular dystrophy, we analyzed histologically and immunohistochemically the developing forebrain in fukutin-deficient chimeric mice and compared it with that in controls (n=4 in each group)...
  4. Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Arai K, et al. Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development. Hum Mol Genet. 2003;12:1449-59 pubmed
    ..Through positional cloning, we previously identified the gene for FCMD, which encodes the fukutin protein...
  5. Kanagawa M, Yu C, Ito C, Fukada S, Hozoji Inada M, Chiyo T, et al. Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. Hum Mol Genet. 2013;22:3003-15 pubmed publisher
    ..clinical treatment for dystroglycanopathy, we here generated two distinct conditional knock-out (cKO) mice for fukutin, the first dystroglycanopathy gene identified for Fukuyama congenital muscular dystrophy...
  6. Kurahashi H, Taniguchi M, Meno C, Taniguchi Y, Takeda S, Horie M, et al. Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neurobiol Dis. 2005;19:208-17 pubmed
    ..FCMD), associated with brain malformation due to defects in neuronal migration, is caused by mutations in fukutin. Several lines of evidence suggest that the fukutin protein plays a pivotal role in synthesis of O-mannosyl sugar ..
  7. Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyonobu T, et al. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun. 2006;350:935-41 pubmed
    ..The function of fukutin, the gene product responsible for FCMD, remains undetermined...
  8. Kanagawa M, Nishimoto A, Chiyonobu T, Takeda S, Miyagoe Suzuki Y, Wang F, et al. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet. 2009;18:621-31 pubmed publisher
    ..Fukuyama-type congenital muscular dystrophy (FCMD), caused by a mutation in the fukutin gene, is a severe form of dystroglycanopathy...
  9. Tachikawa M, Kanagawa M, Yu C, Kobayashi K, Toda T. Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration. J Biol Chem. 2012;287:8398-406 pubmed publisher
    ..dystrophy (FCMD), the second most common childhood muscular dystrophy in Japan, is caused by alterations in the fukutin gene...

More Information


  1. Triki C, Louhichi N, Méziou M, Choyakh F, Kechaou M, Jlidi R, et al. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients. Neuromuscul Disord. 2003;13:4-12 pubmed
    ..These cases, in addition to those reported previously, confirmed the large phenotypic variability in the group of secondary merosin deficiency congenital muscular dystrophy. ..
  2. Foltz S, Modi J, Melick G, Abousaud M, Luan J, Fortunato M, et al. Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice. PLoS ONE. 2016;11:e0147049 pubmed publisher
    ..b>Fktn-deficient dystroglycanopathy mice develop moderate to severe muscular dystrophy with skeletal muscle developmental ..
  3. Saito F, Kanagawa M, Ikeda M, Hagiwara H, Masaki T, Ohkuma H, et al. Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice. Hum Mol Genet. 2014;23:4543-58 pubmed publisher
    ..this study, we generated transgenic mice that overexpress LARGE (LARGE Tg) and crossed them with dy(2J) mice and fukutin conditional knockout mice, a model for laminin ?2-deficient congenital muscular dystrophy (MDC1A) and FCMD, ..
  4. Marius P, Wright J, Findlow I, Williamson P. Expression and purification of the transmembrane domain of Fukutin-I for biophysical studies. Protein Expr Purif. 2010;72:107-12 pubmed publisher
    b>Fukutin-I is a member of a family of putative O-linked glycosyltransferases linked to the glycosylation of the dystrophin complex...
  5. Yong W, Bao S, Chen H, Li D, SANCHEZ E, Shou W. Mice lacking protein phosphatase 5 are defective in ataxia telangiectasia mutated (ATM)-mediated cell cycle arrest. J Biol Chem. 2007;282:14690-4 pubmed
    ..These results demonstrate a direct regulatory linkage between Ppp5 and activation of the ATM-mediated G(2)/M DNA damage checkpoint pathway in vivo. ..
  6. Horie M, Kobayashi K, Takeda S, Nakamura Y, Lyons G, Toda T. Isolation and characterization of the mouse ortholog of the Fukuyama-type congenital muscular dystrophy gene. Genomics. 2002;80:482-6 pubmed
    ..Here we report the isolation of its murine ortholog, Fcmd. The predicted amino acid sequence of murine fukutin protein encoded by Fcmd is 90% identical to that of its human counterpart...
  7. Yagi H, Nakagawa N, Saito T, Kiyonari H, Abe T, Toda T, et al. AGO61-dependent GlcNAc modification primes the formation of functional glycans on ?-dystroglycan. Sci Rep. 2013;3:3288 pubmed publisher
    ..These findings provide a key missing link for understanding how the physiologically critical glycan motif is displayed on ?-DG and provides new insights on the pathological mechanisms of dystroglycanopathy. ..
  8. Henion T, Qu Q, Smith F. Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development. Brain Res Mol Brain Res. 2003;112:177-81 pubmed two such diseases have been localized to the POMGnT1 glycosyltransferase and the putative glycosyltransferase fukutin. We report here the spatial expression pattern of DG together with its putative modifying enzymes during the ..
  9. Kanagawa M, Lu Z, Ito C, Matsuda C, Miyake K, Toda T. Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. PLoS ONE. 2014;9:e106721 pubmed publisher
    ..We previously generated knock-in mice carrying a founder retrotransposal insertion in fukutin, the gene responsible for FCMD, but these mice did not develop muscular dystrophy, which hindered exploring ..
  10. Yamamoto T, Kato Y, Kawaguchi M, Shibata N, Kobayashi M. Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin. Med Electron Microsc. 2004;37:200-7 pubmed
    ..A gene responsible for FCMD is fukutin and that for MEB is protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1)...
  11. Beedle A, Turner A, Saito Y, Lueck J, Foltz S, Fortunato M, et al. Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest. 2012;122:3330-42 pubmed publisher
    ..developed a dystroglycanopathy mouse model using inducible or muscle-specific promoters to conditionally disrupt fukutin (Fktn), a gene required for dystroglycan processing...
  12. Ohtsuka Tsurumi E, Saito Y, Yamamoto T, Voit T, Kobayashi M, Osawa M. Co-localization of fukutin and alpha-dystroglycan in the mouse central nervous system. Brain Res Dev Brain Res. 2004;152:121-7 pubmed
    ..and brain malformations, including Fukuyama-type congenital muscular dystrophy (FCMD) caused by mutations in the fukutin gene...
  13. Kojima K, Nosaka H, Kishimoto Y, Nishiyama Y, Fukuda S, Shimada M, et al. Defective glycosylation of ?-dystroglycan contributes to podocyte flattening. Kidney Int. 2011;79:311-6 pubmed publisher
    ..b>Fukutin, named after the gene responsible for Fukuyama-type congenital muscular dystrophy, is a putative ..
  14. Saito F, Masaki T, Saito Y, Nakamura A, Takeda S, Shimizu T, et al. Defective peripheral nerve myelination and neuromuscular junction formation in fukutin-deficient chimeric mice. J Neurochem. 2007;101:1712-22 pubmed
    ..In this study, we demonstrate that peripheral nerve myelination is defective in the fukutin-deficient chimeric mice, a mouse model of Fukuyama-type congenital muscular dystrophy, which is the most common ..
  15. Foltz S, Luan J, Call J, Patel A, Peissig K, Fortunato M, et al. Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy. Skelet Muscle. 2016;6:20 pubmed publisher
    ..Mutations in a number of genes, including FKTN (fukutin), disrupt ?DG glycosylation...