Gene:
sacsin (DBSS)
Gene ID:
173174
Symbol:
Sacs_predicted
Species:
1182
Description:
A homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R) was identified in two sibling Japanese early onset spastic ataxia patients