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FKTN
FukutinFCMD, LGMD2M
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]
Top validated antibodies |
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| Proteintech Group |  18276-1-AP |
1 references | Polyclonal |
WB
EL
IP
IHC
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| Invitrogen Antibodies | 18276-1-AP |
Polyclonal |
WB
IP
IHC
OA
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| antibodies-online | ABIN952403 |
4 references | Polyclonal |
WB
IHC
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| NovoPro Bioscience Inc. | 110793 |
Polyclonal |
WB
EL
IP
IHC
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| OriGene | AP23619PU-N |
Polyclonal |
WB
ICC
IHC
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