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Fukutin Related Protein (FKRP)

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LGMD2I; MDC1C

Fukutin Related Protein (FKRP)
CCC F896
HGNC 17997
MGI 2447586
PubMed 23817215
RGD 1305852
UniProt Q9H9S5
Wiki FKRP
FKRP encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fukutin Related Protein (FKRP) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fukutin Related Protein (FKRP) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fukutin Related Protein (FKRP) Polyclonal Antibody Customized Service Offer
Assay Kits SEF896Hu ELISA Kit for Fukutin Related Protein (FKRP) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

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

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fukutin Related Protein (FKRP) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fukutin Related Protein (FKRP) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fukutin Related Protein (FKRP) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Fukutin Related Protein (FKRP) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fukutin Related Protein (FKRP) ELISA Kit Customized Service Offer
  1. "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan."Am. J. Hum. Genet. 69:1198-1209(2001) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence and biology of human chromosome 19." Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
  4. "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]
  5. "Subcellular localization of fukutin and fukutin-related protein in muscle cells."J. Biochem. 135:709-712(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo."Muscle Nerve 36:455-465(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations alter secretion of fukutin-related protein."Biochim. Biophys. Acta 1802:253-258(2010) [PubMed] [Europe PMC] [Abstract]
  8. "Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-Terminal interaction."PLoS ONE 6:E22968-E22968(2011) [PubMed] [Europe PMC] [Abstract]
  9. "Limb-girdle muscular dystrophy type 2I is not rare in Taiwan."Neuromuscul. Disord. 23:675-681(2013) [PubMed] [Europe PMC] [Abstract]
  10. "The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation."Elife 3:0-0(2014) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C." Hum. Mol. Genet. 10:2851-2859(2001) [PubMed] [Europe PMC] [Abstract]
  12. "Phenotypic spectrum associated with mutations in the fukutin-related protein gene."Ann. Neurol. 53:537-542(2003) [PubMed] [Europe PMC] [Abstract]
  13. "Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum."Eur. J. Hum. Genet. 11:923-930(2003) [PubMed] [Europe PMC] [Abstract]
  14. "FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts."Neurology 60:988-992(2003) [PubMed] [Europe PMC] [Abstract]
  15. "Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation."Eur. J. Hum. Genet. 12:38-43(2004) [PubMed] [Europe PMC] [Abstract]
  16. "Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome."J. Med. Genet. 41:E61-E61(2004) [PubMed] [Europe PMC] [Abstract]
  17. "New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families."Neurogenetics 5:27-34(2004) [PubMed] [Europe PMC] [Abstract]
  18. "A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex."Neuromuscul. Disord. 17:285-289(2007) [PubMed] [Europe PMC] [Abstract]