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Fukutin (FKTN)

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FCMD; LGMD2M; Fukuyama-type congenital muscular dystrophy protein

Fukutin (FKTN)
CCC F895
HGNC 3622
MGI 2179507
PubMed 12471058
RGD 1310087
UniProt O75072
Wiki Fukutin
Fukutin is a protein associated with Fukuyama congenital muscular dystrophy.It has also been associated with dilated cardiomyopathy.The protein is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Two transcript variants encoding the same protein have been found for this gene.Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fukutin (FKTN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fukutin (FKTN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fukutin (FKTN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Fukutin (FKTN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fukutin (FKTN) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fukutin (FKTN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fukutin (FKTN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fukutin (FKTN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Fukutin (FKTN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fukutin (FKTN) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fukutin (FKTN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fukutin (FKTN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fukutin (FKTN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Fukutin (FKTN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fukutin (FKTN) ELISA Kit Customized Service Offer
  1. "An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy."Nature 394:388-392(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin."FEBS Lett. 489:192-196(2001) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy."Am. J. Med. Genet. 92:184-190(2000) [PubMed] [Europe PMC] [Abstract]
  7. "Neuronal expression of the fukutin gene."Hum. Mol. Genet. 9:3083-3090(2000) [PubMed] [Europe PMC] [Abstract]
  8. "Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy."Neurology 57:115-121(2001) [PubMed] [Europe PMC] [Abstract]
  9. "A new mutation of the fukutin gene in a non-Japanese patient."Ann. Neurol. 53:392-396(2003) [PubMed] [Europe PMC] [Abstract]
  10. "A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype."J. Med. Genet. 40:845-848(2003) [PubMed] [Europe PMC] [Abstract]
  11. "Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome."Clin. Genet. 73:139-145(2008) [PubMed] [Europe PMC] [Abstract]
  12. "Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome." Am. J. Hum. Genet. 91:541-547(2012) [PubMed] [Europe PMC] [Abstract]
  13. "The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation."Elife 3:0-0(2014) [PubMed] [Europe PMC] [Abstract]
  14. "Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)."Hum. Mol. Genet. 8:2303-2309(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness."Ann. Neurol. 60:597-602(2006) [PubMed] [Europe PMC] [Abstract]
  16. "Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy."Ann. Neurol. 60:603-610(2006) [PubMed] [Europe PMC] [Abstract]
  17. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  18. "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study." Neurology 72:1802-1809(2009) [PubMed] [Europe PMC] [Abstract]
  19. "Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype."Neuromuscul. Disord. 19:182-188(2009) [PubMed] [Europe PMC] [Abstract]
  20. "Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation."Neuromuscul. Disord. 19:352-356(2009) [PubMed] [Europe PMC] [Abstract]
  21. "Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly."Gene 539:279-282(2014) [PubMed] [Europe PMC] [Abstract]