1-832-868-1888
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Catalog Number: |
47764 |
| other_names: | FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4 |
Amount: |
100μg |
| calculated_mw: | 54 kDa |
| host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#:O75072 |
Form of Antibody: |
Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol. |
Storage/Stability: |
|
Immunogen: |
Synthetic peptide of human FKTN |
Purification: |
Antigen affinity purification |
Specificity/Sensitivity: |
The antibody detects endogenous levels of total FKTN protein. |
Applications: |
WB |
Background: |
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. |
References: |
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appl_detail: |
WB dilution:1:500-2000 |
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