Fukutin (FKTN) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Recommend Dilution	WB: 500-2000 WB positive control: Mouse liver tissue lysate
Reactivity	Human, Mouse
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide of human FKTN
Formulation	pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Concentration	lot specific
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C.
Predicted Protein Size	54 kDa
Gene Name	fukutin
Database Link	Entrez Gene 2218 Human UniProt ID O75072
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.
Synonyms	CMD1X; FCMD; fukutin; LGMD2M; MGC126857; MGC134944; MGC134945; MGC138243
Reference Data

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