Rabbit Anti-FKRP Polyclonal Antibody #abs130397

abs130397-50ug

1-2 Weeks

201

abs130397-100ug

1-2 Weeks

301

Description

It is possible that FKRP plays a role as a transferase in modifying the glycan structures of alpha-dystroglycan, which is encoded by the DAG1 gene. FKRP belongs to the licD transferase family and may have interactions with the dystrophin-glycoprotein complex (DGC). These findings suggest that FKRP could be a key player in maintaining the structural integrity of muscle fibers and could potentially be involved in the pathogenesis of muscular dystrophies. Further research is needed to fully understand the function of FKRP in glycan modification and its potential therapeutic implications.

Other names

FKRP_HUMAN, also known as Fukutin related protein, FLJ12576, Fukutin-related protein, LGMD2I, MDC1C, and MGC2991, plays an essential role in the body. This protein is crucial for maintaining proper muscle function and is associated with several genetic disorders. Its diverse names reflect its involvement in various biological processes and its association with specific diseases.
The FKRP_HUMAN gene encodes the Fukutin related protein, which is responsible for maintaining the integrity of muscle cells. Mutations in this gene can lead to muscle dystrophies such as limb-girdle muscular dystrophy type 2I (LGMD2I) and muscular dystrophy–dystroglycanopathy type A (MDC1C).
Scientists have also identified the FLJ12576 gene as a relatively unknown yet significant contributor to muscle health. Its exact function and role in disease are still under investigation.
Fukutin-related protein (FKRP_HUMAN) is an essential player in muscular dystrophy. It is involved in the glycosylation of alpha-dystroglycan, a protein critical for muscle cell structure. Defects in FKRP_HUMAN result in defective glycosylation and impaired muscle function.
Given its critical role, researchers have extensively studied this gene, leading to the identification of MGC2991 as a related marker. MGC2991 may serve as a valuable tool in understanding the mechanisms underlying FKRP_HUMAN-associated diseases.
In summary, FKRP_HUMAN, FLJ12576, Fukutin-related protein, LGMD2I, MDC1C, and MGC2991 are all interconnected terms related to a vital protein responsible for muscle health. Understanding their functions and associations with diseases can pave the way for improved diagnoses and potential therapeutic interventions.

Source

Rabbit

Specificity

FKRP Antibody detects endogenous levels of FKRP

Species Reactivity

Human;Mouse;Rat

Application

WB 1:500-1:2000, ELISA(peptide) 1:20000-1:40000

Immunogen

A synthesized peptide derived from human FKRP

Properties

Concentration

1mg/ml

Purification

Immunogen affinity purified

Clonality

Polyclonal Antibody

Stability & Storage

To ensure proper storage, keep the item at a temperature of -20 °C for up to one year. It is crucial to avoid any instances of repeatedly freezing and thawing the item, which could cause damage. Therefore, it is recommended to store the item in a controlled environment to maintain its integrity and quality.

Storage buffer

This is a description of Rabbit IgG, which comes in a phosphate buffered saline solution with a pH of 7.4, as well as 150mM NaCl, 0.02% sodium azide, and 50% glycerol. It should be stored at -20°C and will remain stable for a period of 12 months from the date of receipt.

Target

Background

The phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose) is a crucial carbohydrate structure found in alpha-dystroglycan (DAG1). It plays a significant role in facilitating the strong binding of laminin G-like domain-containing extracellular proteins. This binding is essential for effective interactions with high affinity. A transferase enzyme is responsible for the biosynthesis of this specific trisaccharide structure.

Tissue specificity

The expression of this gene is primarily observed in skeletal muscle, placenta, and heart, while it is less prominent in the brain, lung, liver, kidney, and pancreas.

Posttranslational modification

N-glycosylated.

Celluar localization

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UniPort

Q9H9S5