human FKTN Over-expression AAV
Category: AAV > Over-Expression
Cat. No: AAV-209078
Availability:
3-5 weeks
Name:
AAV-h-FKTN
This is an AAV expressing Human FKTN.
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Viral Details
- Viral Backbone
- Recombinant AAV
- AAV-ITR
- AAV2
- AAV Serotype
- Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids
- Promoter
- CMV (default), or choose from 30 different ubiquitous or cell specific promoter
- Reporter
- none, optional GFP, CFP, YFP, RFP or mCherry
- Storage Buffer
- PBS/5% Glycerol
Gene Details
- Species
- Human
- Gene Symbol
- FKTN
- Gene Name
- fukutin
- Gene ID
- 2218
- Gene Synonyms
- CMD1X; FCMD; LGMD2M; MDDGA4; MDDGB4; MDDGC4
- ORF Size
- 990 bp
- RefSeq#
- BC117700
- Gene Description
- FKTN 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.
- UniGene ID
- Hs.55777
- HGNC ID
- HGNC:3622
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