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 |
UBA1 Ubiquitin-activating enzyme 1       | Xp11.23 | * Spinal muscular atrophy, distal, X-linked, 2 - (12.48)* Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.48) |