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The protein encoded by FKTN 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. Additionally we are shipping Fukutin Proteins (7) and Fukutin Kits (2) and many more products for this protein.
Showing 10 out of 59 products:
Human Polyclonal Fukutin Primary Antibody for EIA, IHC (p) - ABIN952403
Lim, Ki, Kim, Cho, Kim, Hwang, Kim, Hwang, Park, Lim, Kim, Lee, Chae: Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea. in Neuromuscular disorders : NMD 2010
Show all 4 references for ABIN952403
Fukutin and FKRP (show FKRP Antibodies) have functions that affect ocular development in zebrafish independently of dystroglycan (show DAG1 Antibodies).
Muscle pathology in embryos lacking Fukutin or FKRP (show FKRP Antibodies) is different from loss of dystroglycan (show DAG1 Antibodies); knockdown of Fukutin or FKRP (show FKRP Antibodies) leads to a notochord defect and a perturbation of laminin expression before muscle degeneration.
Mutation in the fukutin gene is associated with Fukuyama congenital muscular dystrophy and microcephaly.
four new non-Japanese patients with FKTN mutations and congenital muscular dystrophy
FKTN mutations are the most common genetic cause of congenital muscular dystrophies with defective alpha-dystroglycan glycosylation in Korea
In Fukuyama congenital muscular dystrophy (FCMD) cases, expression of fukutin looked decreased.
Fukutin is associated with Walker-Warburg syndrome.
Data suggest that fukutin and fukutin-related protein (FKRP (show FKRP Antibodies)) may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP (show FKRP Antibodies) is most likely involved in the initial step in this synthesis.
Fukutin seems to bind to both the hypoglycosylated and fully glycosylated form of alpha-dystroglycan, and seems bind to the core area rather than the sugar chain of alpha-dystroglycan
Walker-Warburg syndrome carries a homozygous-single nucleotide insertion that produces a frameshift, or 2 mutations, a point mutation that produces an amino acid substitution, & deletion in 3'UTR (show UTS2R Antibodies) that affects the polyadenylation signal of fukutin gene.
FCMD mutations are a more common cause of Walker-Warburg syndrome outside of the Middle East.
The homozygous nonsense mutations within the coding region identified in Turkish patients are predicted to cause a total loss of fukutin activity and are likely to produce a more severe phenotype which closely resembles WWS.
Fktn deficient mice express moderate to severe muscular dystrophy; glycosylated alpha-dystroglycan has a unique role in muscle regeneration in these mice
Mouse fukutin deletion impairs dystroglycan (show DAG1 Antibodies) processing, recapitulates muscular dystrophy and is relevant to modifications near the dystroglycan (show DAG1 Antibodies) O-mannose sugar.
disease-causing missense mutations cause abnormal folding and localization of fukutin protein
the highly hydrophobic transmembrane domain of Fukutin-1 was purified; the identity of the peptide and revealed that in hydrophobic solvents mimicking the bilayer, the peptide adopts a well-structured alpha-helix as predicted from the sequence.
Fukuyama-type congenital muscular dystrophy (FCMD) murine ortholog, Fcmd is 90% identical to that of its human counterpart
Merosin (show LAMA2 Antibodies)-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the FCMD locus, in three Tunisian patients
These results support the hypothesis that fukutin is involved in the glycosylation process of alpha-DG and that a defect in this process plays an essential role in the pathogenesis of FCMD.
The basal lamina of the cortical surface in chimeras showed defects at E14 (show NPAT Antibodies), coinciding with the earliest time point at which ectopia were detected
From these findings, we propose that fukutin forms a complex with POMGnT1 (show POMGNT1 Antibodies) and may modulate its enzymatic activity.
fukutin plays crucial roles in the myelination of peripheral nerve and formation of neuromuscular junction. suggest that defective glycosylation of alpha-dystroglycan may play a role in the impairment of these processes in the deficiency of fukutin.
The protein encoded by this gene 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). Alternatively spliced transcript variants have been found for this gene.
Fukuyama type congenital muscular dystrophy (fukutin)
, Fukuyama type congenital muscular dystrophy protein
, patient fukutin
, Fukuyama type congenital muscular dystrophy homolog