| Protein Name | fukutin |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 2218 |
| Gene Symbol | FKTN |
| UniProt | O75072 (FKTN_HUMAN), A0A6Q8PG93 (A0A6Q8PG93_HUMAN), B4E2W4 (B4E2W4_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
20
Total Number of Articles : 19 |
Description |
fukutin |
| Gene 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] |
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| Properties | |