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fktn

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Official Full Name
fukutin
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
FKTN; fukutin; FCMD, Fukuyama type congenital muscular dystrophy (fukutin); LGMD2M; CMD1X; FCMD; FKTN_HUMAN; Fukuyama type congenital muscular dystrophy protein; Fukuyama-type congenital muscular dystrophy protein; MDDGA4; MDDGB4; MDDGC4; MGC126857; MGC134944; MGC134945; MGC138243; OTTHUMP00000021841; im:7163166; zgc:162828; Fukuyama type congenital muscular dystrophy (fukutin)

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