Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
PUS1 Pseudouridylate synthase 1(M)       | 12q24.33 | * Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.61) |
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 |
PUS1 Pseudouridylate synthase 1(M) | 12q24.33 | * Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.61) |