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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
FKTN-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
FKTN-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
FKTN-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
FKTN-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
FKTN-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : FKTN
Gene Name : Fukutin
Chromosome : CHR 9: 105,558,116-105,655,949
Locus : 9q31.2
Alt. Genes : KIF20A
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