1-832-868-1888
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Catalog Number: |
78096 |
other_names: | FKTN; CMD1X; FCMD; LGMD2M; MDDGA4; MDDGB4; MDDGC4; fukutin |
Amount: |
100μg |
calculated_mw: | 51kDa |
host_species: | Rabbit |
Price: |
$318 |
Swiss-Prot No: |
O75072 |
Form of Antibody: |
|
Storage/Stability: |
|
Immunogen: |
A synthesized peptide derived from human Fukutin. |
Purification: |
Affinity purification |
Specificity/Sensitivity: |
|
Applications: |
WB,IHC |
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: |
|
appl_detail: |
WB 1:500 - 1:2000 |
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