Product Datasheet
FKTN Antibody
Catalog Number: 47764
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:O75072
NCBI Gene ID:2218
Gene Accssion:NP_006722
- Form of Antibody:
- Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
- Immunogen:
- Synthetic peptide of human FKTN
- appl_detail:
- WB dilution:1:500-2000
- other_names:
- FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4
- Purification:
- Antigen affinity purification
- Specificity:
- The antibody detects endogenous levels of total FKTN protein.
- 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.
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