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. |
Applications: |
ELISA, WB |
Name of antibody: |
FKTN |
Immunogen: |
Synthetic peptide of human FKTN |
Full name: |
fukutin |
Synonyms: |
FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4 |
SwissProt: |
O75072 |
ELISA Recommended dilution: |
5000-10000 |
WB Predicted band size: |
54 kDa |
WB Positive control: |
Mouse liver tissue lysate |
WB Recommended dilution: |
500-2000 |