Species: Hu, Mu, Rt, Po, Bv, Sh
Applications: WB, ICC/IF, IHC
Host: Rabbit Monoclonal
Species: Hu, Mu, Rt
Applications: WB, ICC/IF, IHC
Host: Rabbit Polyclonal
Species: Hu, Bv, Sh
Applications: WB, ICC/IF, IP, KO
Host: Rabbit Polyclonal
Species: Hu
Applications: PAGE
Species: Hu
Applications: AC
Description
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq)
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
Human
Human
|
| Product By Gene ID |
4287 |
| Alternate Names |
- ataxin 3
- ATX3AT3
- EC 3.4.19.12
- EC 3.4.22
- Machado-Joseph disease protein 1
- MJD1
- MJDolivopontocerebellar ataxia3, autosomal dominant, ataxin 3)
- olivopontocerebellar ataxia 3
- Spinocerebellar ataxia type 3 protein
|
