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FKTN Full-Length MS Protein Standard

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Product Description


NameFKTN Full-Length MS Protein Standard
Cat#CPFL311422
Protein Namefukutin
SymbolFKTN
SynonymsCMD1X; FCMD; LGMD2M; MDDGA4; MDDGB4; MDDGC4
AccessionNM_001079802
Cytogenetic9q31-q33
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionFKTN Full-Length MS Protein Standard (NP_001073270), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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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