Gene Symbol | FKTN |
Entrez Gene ID | 2218 |
Full Name | fukutin |
Synonyms | CMD1X,FCMD,LGMD2M,MDDGA4,MDDGB4,MDDGC4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3); Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3); Cardiomyopathy, dilated, 1X, 611615 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3) |