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 |
UCHL1 Ubiquitin Carboxyl-Terminal Esterase L1       | 4p13 | * Spastic paraplegia 79, autosomal recessive - SPG79 (15.23, 15.72)* Spastic paraplegia 79, autosomal dominant - SPG79A (15.23, 15.72) |