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 |
TTPA Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)       | 8q13.1-q13.3 | * Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED (13.59)* Ataxia with isolated vitamin E deficiency - TTPA (13.59) |