Table 1.
Genes known to be associated with ALS
| Proportion of cases associated with genea | |||||
|---|---|---|---|---|---|
| Gene | Protein product | Protein function | Locus | Familial ALS | Sporadic ALS |
| C9orf72 | Chromosome 9 open reading frame 72 | Nucleotide factor | 9p21–22 | 20–50% | 10% |
| SOD1 | Superoxide dismutase 1 | Superoxide dismutase | 21q22.1 | 10–20% | 2% |
| TARDBP | TDP43 | RNA-binding protein | q36 | 5% | <1% |
| FUS | Fused in sarcoma protein | RNA-binding protein | 16p11.2 | 5% | <1% |
| MAT3 | Matrin 3 | RNA-binding protein | 5q31.2 | <1% | <1% |
| HNRNPA1 | Heterogeneous nuclear ribonucleoprotein A1 | RNA-binding protein | 12q13.1 | <1% | <1% |
| OPTN | Optineurin | Mediator of apoptosis, inflammation and vasoconstriction, cellular morphogenesis, membrane trafficking, vesicle trafficking, transcription activation | 10p15–p14 | 4% | <1% |
| UBQLN2 | Ubiquilin 2 | Ubiquitination and protein degradation | Xp11.23–Xp13.1 | <1% | <1% |
| SQSTM1 | Sequestosome 1 | Autophagosome cargo protein, targets proteins for autophagy | 5q35.3 | <1% | <1% |
| TBK1 | Serine/threonine-protein kinase TBK1 | Phosphorylation of nuclear factor-κB, regulation of cell proliferation, apoptosis and glucose metabolism, promotion of autophagy via the ubiquitylation pathway | 12q14.2 | <1% | <1% |
| VCP | Transitional endoplasmic reticulum ATPase | Ubiquitin segregase | 9p13.3 | 2% | <1% |
| DCTN1 | Dynactin subunit 1 | Mediator of organelle transport, spindle formation and axonogenesis | 2p13 | 1% | <1% |
| ANG | Angiogenin | Ribonuclease | 14q11 | <1% | <1% |
| PFN1 | Profilin 1 | Actin-binding protein | 17p13.2 | <1% | <1% |
| CHCHD10 | Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 | Maintenance of cristae morphology in mitochondria, oxidative phosphorylation | 22q11.23 | <1% | <1% |
| TUBA4A | Tubulin α4A chain | Microtubule formation, maintenance of cytoskeleton and structure of cells | 2q36.1 | <1% | <1% |