Species: Hu, Mu, Rt, RM
Applications: WB, ICC/IF
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt, Po, Bv, Ca, Eq, Rb
Applications: WB, IHC, IHC-P
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt, Bv, Ca, Eq, Gp, Rb
Applications: WB
Host: Rabbit Polyclonal
Species: Hu
Applications: WB
Species: Hu
Applications: WB, ELISA, PA, PAGE, AP
Species: Hu
Applications: AC
Description
FKTN genes encode fukutin proteins that in isoform 1 are 461 amino acids long at 54 kDA and at isoform 2 are 430 amino acids long at 49 kDA. These proteins are thought to participate in glycosylation of alpha-dystroglycan/DAG1 as it is probably a glycosyltransferase. Additionally, it may reinforce large a complex surrounding the outside and inside of muscle membranes, further enhancing brain development. FKTN is involved with the CNBP gene. Defects in this gene cause myscular dystrophy-dystroglycanopathy congenital types A4, B4, C4, and cadiomyopathy dilated type 1X. FKTN is also linked to optic atrophy, cleft lip, walker-warburg syndrome, dubowitz syndrome, retinal detachment, and neuronal migration disorders.
Bioinformatics
Entrez |
Human |
Uniprot |
Human Human Human |
Product By Gene ID |
2218 |
Alternate Names |
- Fukuyama type congenital muscular dystrophy (fukutin)
- Fukuyama-type congenital muscular dystrophy protein
- MDDGC4
- EC 2.-
- MDDGB4
- Fukuyama type congenital muscular dystrophy protein
- MDDGA4
- MGC138243
- CMD1X
- FCMDMGC134945
- LGMD2MMGC134944
- MGC126857
- fukutin
|
Research Areas for FKTN
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Neuroscience
Bioinformatics Tool for FKTN
Discover related pathways, diseases and genes to FKTN. Need help? Read the
Bioinformatics Tool Guide for instructions on using this tool.