Table 1.
List of fALS genes and loci
| OMIM # | fALS | Genomic location | Mode of inheritance | Gene/protein (symbol) | Cellular process | Reference |
|---|---|---|---|---|---|---|
| 105400 | ALS1 | 21q22.1 | Dominant | Superoxide dismutase 1 (SOD1) | ROS detoxification | (Rosen 1993) |
| 205100 | ALS2 | 2p33 | Recessive | Alsin (ALS2) | Vesicle traffic | (Yang et al. 2001) |
| 606640 | ALS3 | 18q21 | Dominant | Unknown | Unknown | (Hand et al. 2002) |
| 602433 | ALS4 | 9q34 | Dominant | Senataxin (SETX) | Transcription, RNA processing | (Chen et al. 2004) |
| 602099 | ALS5 | 15q15-21 | Dom./Rec. | Unknown | Unknown | (Hentati et al. 1998) |
| 608030 | ALS6 | 16q11 | Recessive | Fused in sarcoma (FUS) | DNA repair, transcription regulation | (Kwiatkowski et al. 2009) |
| 608031 | ALS7 | 20p13 | Dominant | Unknown | Unknown | (Sapp et al. 2003) |
| 608627 | ALS8 | 20q13.3 | Dominant | Vesicle-associated protein B (VAPB) | Vesicle Traffic | (Nishimura et al. 2004) |
| 611895 | ALS9 | 14q11.2 | Dominant | Angiogenin (ANG) | RNase, angiogenesis | (Greenway et al. 2006) |
| 612069 | ALS10 | 1q36 | Dominant | TAR DNA-binding protein (TARDP, TDP43) | DNA binding; transcription regulation and splicing | (Sreedharan et al. 2008) |
| 612577 | ALS11 | 6q21 | Dominant | SAC domain-containing inositol phosphatase 3 (FIG4) | Lipid metabolism, endosome | (Chow et al. 2009) |
| 613435 | ALS12 | 10p13 | Dom./rec. | Optineurin (OPTN) | RNA stabilization, autophagy? | (Maruyama et al. 2010) |
| 601517 | ALS13 (SCA2) | 12q24.12 | Dominant | Ataxin 2 (ATXN2) | Poly-glutamate stretches | (Pulst et al. 1996) |
| 613954 | ALS14 | 9p13.3 | Dominant | Valosin-containing Protein (VCP) | ER protein export, autophagy | (Johnson et al. 2010) |
| 300857 | ALS15 | Xp11.21 | X-linked dom. | Ubiquilin 2, (UBQLN2) | Ubiquitin-like, protein degradation | (Deng et al. 2011) |
| 614373 | ALS16 | 9p13.3 | Dominant | Sigma nonopioid intracellular receptor 1 (SIGMAR1) | Signalling receptor, ion channel regulation | (Al-Saif et al. 2011) |
| 614696 | ALS17 | 3p11.2 | Dominant | Charged multivesicular body protein 2B (CHMP2B) | Vesicle traffic, endosomal sorting | (Parkinson et al. 2006) |
| 614808 | ALS18 | 17p13.2 | Dominant | Profilin 1 (PFN1) | Actin filament assembly | (Wu et al. 2012) |
|
105550 614260 |
FTD-ALS | 9p21 | Dominant | C9ORF72 | Unknown function | (DeJesus-Hernandez et al. 2011; Renton et al. 2011) |