Product Datasheet
fukutin antibody
Catalog Number: 22996
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot:O75072
Gene ID:2218
- Form of Antibody:
- Supplied in 0.1M Tris-buffered saline with 10% Glycerol (pH7.0). 0.01% Thimerosal was added as a preservative.
- Storage:
- Store at -20˚C for long term preservation (recommended). Store at 4˚C for short term use.
- Immunogen:
- Recombinant protein fragment contain a sequence corresponding to a region within amino acids 222 and 456 of Human FKTN
- Purification:
- Purified by antigen-affinity chromatography.
- 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). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq]
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