Species: Hu, Mu, Rt
Applications: WB, IHC
Host: Rabbit Monoclonal
Species: Hu, Mu, Rt, RM
Applications: WB, ICC/IF
Host: Rabbit Polyclonal
Species: Hu
Applications: WB, IHC
Host: Rabbit Polyclonal
Species: Hu
Applications: WB
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 |
- CMD1X
- EC 2.-
- FCMDMGC134945
- fukutin
- Fukuyama type congenital muscular dystrophy (fukutin)
- Fukuyama type congenital muscular dystrophy protein
- Fukuyama-type congenital muscular dystrophy protein
- LGMD2MMGC134944
- MDDGA4
- MDDGB4
- MDDGC4
- MGC126857
- MGC138243
|
Research Areas for FKTN
Find related products by research area and learn more about each of the different research areas below.
Neuroscience
