靶标：
FKTN
产品别名：
CMD1X； FCMD； LGMD2M； LGMDR13； MDDGA4； MDDGB4； MDDGC4； FKTN； fukutin； fukutin； ribitol-5-phosphate transferase FKTN； Fukuyama type congenital muscular dystrophy protein； patient fukutin； ribitol-5-phosphate transferase；
背景信息：
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. [provided by RefSeq, Nov 2010],
