Table 1. Genes causing ALS.
Gene | Location | Inheritance | Percentage explained | Putative protein function | |
---|---|---|---|---|---|
Familial ALS | Sporadic ALS | ||||
TARDBP | 1p36 | AD | 4 | 1 | RNA metabolism |
SQSTM1 | 5q35 | AD | 1 | <1 | Ubiquitination; autophagy |
C9ORF72 | 9p21 | AD | 40 | 7 | DENN protein |
VCP | 9p13 | AD | 1 | 1 | Proteasome; vesicle trafficking |
OPTN | 10p13 | AR & AD | <1 | <1 | Vesicle trafficking |
FUS | 16p11 | AD & AR | 4 | 1 | RNA metabolism |
PFN1 | 17p13 | AD | <1 | <1 | Cytoskeletal dynamics |
SOD1 | 21q22 | AD & AR | 12 | 1–2 | Superoxide metabolism |
UBQLN2 | Xp11 | XD | <1 | <1 | Proteasome |
AD = autosomal dominant; AR = autosomal recessive; XD = X-linked dominant; ALS = amyotrophic lateral sclerosis, and DENN = Differentially Expressed in Normal and Neoplasia.