Fktn

Summary

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

Top Publications

  1. Hayashi Y, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, et al. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology. 2001;57:115-21 pubmed
    ..The gene for FCMD is located on chromosome 9q31, and encodes a novel protein named fukutin. The function of fukutin is not known yet, but is suggested to be an enzyme that modifies the cell-surface ..
  2. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo Iida E, Nomura Y, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394:388-92 pubmed
    ..The predicted protein, which we term fukutin, contains an amino-terminal signal sequence, which together with results from transfection experiments suggests ..
  3. 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)...
  4. Matsumoto H, Noguchi S, Sugie K, Ogawa M, Murayama K, Hayashi Y, et al. Subcellular localization of fukutin and fukutin-related protein in muscle cells. J Biochem. 2004;135:709-12 pubmed
    ..The genes responsible for these disorders are fukutin and fukutin-related protein (FKRP), respectively...
  5. Murakami T, Hayashi Y, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006;60:597-602 pubmed
    The fukutin gene (FKTN) is the causative gene for Fukuyama-type congenital muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle wasting and hypotonia from early infancy with mental retardation...
  6. Chang W, Winder T, LeDuc C, Simpson L, Millar W, Dungan J, et al. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 2009;29:560-9 pubmed publisher
    ..The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital ..
  7. Puckett R, Moore S, Winder T, Willer T, Romansky S, Covault K, et al. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. Neuromuscul Disord. 2009;19:352-6 pubmed publisher
    ..Mutations in the fukutin (FKTN) gene have primarily been identified among patients with classic Fukuyama congenital muscular dystrophy (..
  8. Yis U, Uyanik G, Heck P, Smitka M, Nobel H, Ebinger F, et al. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscul Disord. 2011;21:20-30 pubmed publisher
    Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of ?-dystroglycan (?-DG)...
  9. Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, et al. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. elife. 2014;3: pubmed publisher
    ..Here we show that FKRP, FKTN, TMEM5 and B4GAT1 (formerly known as B3GNT1) localize to the Golgi and contribute to the O-mannosyl post-..

More Information

Publications15

  1. Kondo Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, et al. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet. 1999;8:2303-9 pubmed
    ..chromosome 9q31, the gene responsible for FCMD, which encodes a novel 461 amino acid protein which we have termed fukutin. Most FCMD-bearing chromosomes examined to date (87%) have been derived from a single ancestral founder, whose ..
  2. Saito Y, Mizuguchi M, Oka A, Takashima S. Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain. Ann Neurol. 2000;47:756-64 pubmed
    Fukuyama-type congenital muscular dystrophy (FCMD) results from a mutation in a gene on chromosome 9q31, fukutin, and is characterized pathologically by micropolygyria of the cerebral and cerebellar cortices...
  3. Godfrey C, Escolar D, Brockington M, Clement E, Mein R, Jimenez Mallebrera C, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol. 2006;60:603-10 pubmed
    ..Six causative genes have been identified in these disorders including fukutin. Mutations in fukutin cause Fukuyama congenital muscular dystrophy...
  4. Yamamoto T, Kato Y, Shibata N, Sawada T, Osawa M, Kobayashi M. A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation. Int J Exp Pathol. 2008;89:332-41 pubmed publisher
    b>Fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy (FCMD), is presumably related to the glycosylation of alpha-dystroglycan (alpha-DG), involved in basement membrane formation...
  5. Vuillaumier Barrot S, Quijano Roy S, Bouchet Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, et al. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Neuromuscul Disord. 2009;19:182-8 pubmed publisher
    Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN)...
  6. Fortunato M, Ball C, Hollinger K, Patel N, Modi J, Rajasekaran V, et al. Development of rabbit monoclonal antibodies for detection of alpha-dystroglycan in normal and dystrophic tissue. PLoS ONE. 2014;9:e97567 pubmed publisher
    ..In a mouse model of fukutin-deficient dystroglycanopathy, all antibodies detected low molecular weight alpha-dystroglycan in disease samples ..