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Mouse Anti-FKRP Recombinant Antibody (CBXF-3329) (CBMAB-F0521-CQ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXF-3329
Antibody Isotype
IgG1
Application
ELISA, WB

Basic Information

Immunogen
KLH conjugated synthetic peptide selected from the C-term region of human FKRP
Specificity
Human
Antibody Isotype
IgG1
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
Liquid
Preservative
0.09% sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Fukutin Related Protein
Introduction
This gene 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, cognitive disability, 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.
Entrez Gene ID
79147
UniProt ID
Q9H9S5
Alternative Names
Fukutin Related Protein; Fukutin-Related Protein; EC 2.-.-.-; LGMD2I; MDDGA5; MDDGB5; MDDGC5; MDC1C;
Function
Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to 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:25279699, PubMed:26923585, PubMed:29477842).

This constitutes the second step in the formation of the ribose 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:25279699, PubMed:26923585, PubMed:29477842).
Biological Process
Protein O-linked mannosylation Source: UniProtKB
Protein processing Source: Ensembl
Cellular Location
Golgi apparatus membrane; Secreted; Cytoplasm; Rough endoplasmic reticulum; Sarcolemma. According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted (PubMed:19900540). Localization at the cell membrane may require the presence of dystroglycan (By similarity). At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes (PubMed:17554798, PubMed:21886772). In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum (PubMed:15213246).
Involvement in disease
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5):
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 with or without mental retardation B5 (MDDGB5):
A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements.
Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5):
An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients.
Topology
Cytoplasmic: 1-6
Helical: 7-29
Lumenal: 30-495
PTM
N-glycosylated.
More Infomation

Dhoke, N. R., Kim, H., Selvaraj, S., Azzag, K., Zhou, H., Oliveira, N. A., ... & Perlingeiro, R. C. (2021). A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy. Cell reports, 36(2), 109360.

Ortiz-Cordero, C., Bincoletto, C., Dhoke, N. R., Selvaraj, S., Magli, A., Zhou, H., ... & Perlingeiro, R. C. (2021). Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies. Stem Cell Reports, 16(11), 2752-2767.

Ortiz-Cordero, C., Azzag, K., & Perlingeiro, R. C. (2021). Fukutin-Related protein: from pathology to treatments. Trends in cell biology, 31(3), 197-210.

Leung, D. G., Bocchieri, A. E., Ahlawat, S., Jacobs, M. A., Parekh, V. S., Braverman, V., ... & Wagner, K. R. (2021). A phase Ib/IIa, open‐label, multiple ascending‐dose trial of domagrozumab in fukutin‐related protein limb‐girdle muscular dystrophy. Muscle & Nerve, 64(2), 172-179.

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.

Libell, E. M., Richardson, J. A., Lutz, K. L., Ng, B. Y., Mockler, S. R., Laubscher, K. M., ... & Mathews, K. D. (2020). Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related. Muscle & nerve, 62(5), 626-632.

Cataldi, M. P., Blaeser, A., Lu, P., Leroy, V., & Lu, Q. L. (2020). ISPD overexpression enhances ribitol-induced glycosylation of α-dystroglycan in dystrophic FKRP mutant mice. Molecular Therapy-Methods & Clinical Development, 17, 271-280.

Henriques, S. F., Gicquel, E., Marsolier, J., & Richard, I. (2019). Functional and cellular localization diversity associated with Fukutin‐related protein patient genetic variants. Human Mutation, 40(10), 1874-1885.

Cataldi, M. P., Lu, P., Blaeser, A., & Lu, Q. L. (2018). Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice. Nature communications, 9(1), 3448.

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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