FKTN
fukutin
Sinónimos:
CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4
Especie:
Human FKTN (2218), Mouse Fktn (246179), Rat Fktn (362520), domestic cat FKTN (101084659), sheep FKTN (101117989), Domestic Rabbit FKTN (100355254), Zebrafish fktn (100006345), chicken FKTN (427303), dog FKTN (481652), Horse FKTN (100054199) ...Más
ID UniProtKB:
ID del gen:
- Human(2218) 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]
- Mouse(246179) fukutin
- Rat(362520) fukutin
- domestic cat(101084659) fukutin
- sheep(101117989) fukutin
- Domestic Rabbit(100355254) fukutin
- Zebrafish(100006345) fukutin
- chicken(427303) fukutin
- dog(481652) fukutin
- Horse(100054199) fukutin
- domestic guinea pig(100722995) fukutin
- naked mole-rat(101701255) fukutin
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