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Mouse Anti-FKTN Antibody (5H10) (CBMAB-1228CQ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
5H10
Antibody Isotype
IgG2b
Application
IF, WB

Basic Information

Immunogen
Recombinant Peptide (aa 26-58, 177-220, 233-268, 415-461)
Specificity
Human
Antibody Isotype
IgG2b
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Supernatant
Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
aa 180-187 (SGNYL-HG)

Target

Full Name
FKTN
Introduction
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. Diseases associated with FKTN include Muscular Dystrophy-Dystroglycanopathy , Type A, 4 and Muscular Dystrophy-Dystroglycanopathy , Type C, 4. Among its related pathways are Mannose type O-glycan biosynthesis and Metabolism.
Entrez Gene ID
2218
UniProt ID
O75027
Alternative Names
FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4
Function
Catalyzes the transfer of CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842).

This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842).

Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757).

May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699).

Could be involved in brain development (Probable).
Biological Process
Muscle organ development Source: ProtInc
Negative regulation of cell population proliferation Source: BHF-UCL
Negative regulation of JNK cascade Source: BHF-UCL
Nervous system development Source: ProtInc
Protein O-linked glycosylation Source: UniProtKB
Protein O-linked mannosylation Source: UniProtKB
Regulation of protein glycosylation Source: BHF-UCL
Cellular Location
Golgi apparatus membrane; Nucleus; Cytoplasm. In retinal tissue, does not localize with the Golgi apparatus.
Involvement in disease
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4):
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4):
An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of mental retardation.
Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4):
An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids.
Cardiomyopathy, dilated 1X (CMD1X):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Topology
Cytoplasmic: 1-7
Helical: 8-28
Lumenal: 29-461
More Infomation

Gaertner, A., Burr, L., Klauke, B., Brodehl, A., Laser, K. T., Klingel, K., ... & Milting, H. (2022). Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern. International Journal of Molecular Sciences, 23(12), 6685.

Larrañaga-Moreira, J. M., Blanco-Arias, P., Millán-Tejado, S., Barge-Caballero, G., Crespo-Leiro, M. G., & Barriales-Villa, R. (2021). Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p. Gly424Ser genetic variant in the fukutin gene. Revista Española de Cardiología (English Edition).

Villarreal-Molina, M. T., Rosas-Madrigal, S., López-Mora, E., Calderón-Avila, A. L., Rodríguez-Zanella, H., Romero-Hidalgo, S., ... & Carnevale, A. (2021). Homozygous fukutin missense mutation in two Mexican siblings with dilated cardiomyopathy. Revista de investigación clínica, 73(3), 132-137.

Southern, W. M., Nichenko, A. S., Qualls, A. E., Portman, K., Gidon, A., Beedle, A. M., & Call, J. A. (2020). Mitochondrial dysfunction in skeletal muscle of fukutin‐deficient mice is resistant to exercise‐and 5‐aminoimidazole‐4‐carboxamide ribonucleotide‐induced rescue. Experimental physiology, 105(10), 1767-1777.

Traversa, A., Bernardo, S., Paiardini, A., Giovannetti, A., Marchionni, E., Genovesi, M. L., ... & Pizzuti, A. (2020). Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation. Molecular Genetics & Genomic Medicine, 8(1), e1054.

Kuwabara, N., Imae, R., Manya, H., Tanaka, T., Mizuno, M., Tsumoto, H., ... & Kato, R. (2020). Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy. Nature communications, 11(1), 303.

Ujihara, Y., Kanagawa, M., Mohri, S., Takatsu, S., Kobayashi, K., Toda, T., ... & Katanosaka, Y. (2019). Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure. Nature communications, 10(1), 5754.

Haro, C., Uribe, M. L., Quereda, C., Cruces, J., & Martín-Nieto, J. (2018). Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes. Molecular Vision, 24, 43.

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For research use only. Not intended for any clinical use.

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