FKTN Polyclonal Antibody

Reddot Biotech

FKTN Polyclonal Antibody

5

1.08 mg/ml

FKTN

fukutin

CMD1X; FCMD; fukutin; Fukuyama type congenital muscular dystrophy protein; LGMD2M; LGMDR13; MDDGA4; MDDGB4; MDDGC4; patient fukutin; ribitol-5-phosphate transferase

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.

-20°C

12352203