This table has been prepared by Dr Gisèle Bonne * - PhD and by Pr. François Rivier ** - MD, PhD
This website is developed and maintained by Dalil Hamroun** - PhD
* Sorbonne Université-Inserm, Centre of Research in Myology , Paris, France.
** Chu de Montpellier, Montpellier. France.
GT_NMD 2024 (updated 17/01/2024)
Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
STUB1 STIP1 homology and U-box containing protein 1       | 16p13.3 | * Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.45, 13.76)* Spinocerebellar ataxia 48 - SCA48 (13.45, 13.76) |