Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
SACS
Sacsin




13q12
* Charcot-Marie-Tooth disease, axonal; related to SACS - (13.94, 14.93, 15.81)
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.94, 14.93, 15.81)
* Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.94, 14.93, 15.81)
* Spastic ataxia, Charlevoix-Saguenay type - SACS (13.94, 14.93, 15.81)