Fukutin Rabbit monoclonal antibody

Size

POA

SKU:: A1385
Additional Names:: CMD1X|FCMD|Fukutin|LGMD2M|LGMDR13|MDDGA4|MDDGB4|MDDGC4
Application:: ELISA, WB, IHC-P
Molecular Weight:: 54kDa
Species Reactivity:: Human
Purification:: Affinity Purified
Storage Conditions:: -20[o]C Avoid freeze/thaw cycles.
Supplier:: Abclonal
Host:: Rabbit
Reactivities:: Human, Mouse, Rat
Immunogen:: Synthetic peptide. This information is considered to be commercially sensitive.
Formulation:: Unmodified
Sequence:: DVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY
Uniprot:: O75072
Synonyms:: CMD1X;FCMD;fukutin;Fukuyama type congenital muscular dystrophy protein;Fukuyama-type congenital muscular dystrophy protein;LGMD2M;LGMDR13;MDDGA4;MDDGB4;MDDGC4;patient fukutin;ribitol-5-phosphate transferase
Extra Details:: 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.