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FKTN / Fukutin 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.
Gene Name: | fukutin |
Synonyms: | FKTN, CMD1X, FCMD, MDDGB4, MDDGA4, Patient fukutin, Fukutin, LGMD2M, MDDGC4 |
Target Sequences: | NM_001079802 NP_001073270.1 O75072 |
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