Table 3.
Genes associated with potential causative or disease modifying effects in ALS
| Gene | Protein | Function |
|---|---|---|
| APOE(135) | Apolipoprotein E | Lipoprotein metabolism, immune regulation |
| ARHGEF28 (136–137) | Rho guanine nucleotide exchange factor (GEF) 28 | Regulates integrin and growth factor signaling pathways |
| CHGB(138) | Chromogranin B | Neuroendocrine secretory granule protein |
| CHRNA3 (139) | Neuronal acetylcholine receptor subunit alpha-3 | Nicotinic acetylcholine receptor subunit |
| CHRNA4 (140) | Neuronal acetylcholine receptor subunit alpha-4 | Nicotinic acetylcholine receptor subunit |
| CHRNB4 (139) | Neuronal acetylcholine receptor subunit beta-4 | Nicotinic acetylcholine receptor subunit |
| CX3CR1(141) | CX3C chemokine receptor 1 | Chemokine receptor |
| DPP6 (142–144) | Dipeptidyl-peptidase 6 | Alters expression/properties of voltage-gated K+ channels |
| DPYSL3(145) | Dihydropyrimidinase-Like 3 | Class 3 semaphorin signaling, cytoskeletal remodeling |
| ELP3(146) | Elongator acetyltransferase complex subunit 3 | Transcript elongation |
| EPHA3 (147) | EPH receptor A3 | Neighboring cell signaling, axonal segregation during development |
| EPHA4(147) | EPH receptor A4 | Neighboring cell signaling, repair after nerve injury, angiogenesis |
| ERBB4; ALS19 (148) | V-erb-B2 avian erythroblastic leukemia viral oncogene homolog 4 | Tyrosine protein kinase involved in cell signaling; potential effects on anti-apoptosis and gene expression |
| ERLIN2 (149) | Endoplasmic reticulum lipid raft-associated protein 2 | Endoplasmic reticulum-associated degradation of IP3 receptors |
| EWSR1 (150) | EWS RNA-binding protein 1 | Gene expression, cell signaling, RNA processing and transport |
| GRN(151–152) | Progranulin | Regulation of cell growth |
| FGGY(143) | FGGY carbohydrate kinase domain containing | Phosphorylation of carbohydrates |
| HFE(153–154) | Hemochromatosis | Iron absorption |
| ITPR2 (155) | Inositol 1,4,5-trisphosphate receptor | Mobilization of intracellular Ca2+ stores |
| KIFAP3 (156) | Kinesin-associated protein 3 | Small G-protein |
| MAOB(157) | Monoamine oxidase B | Mitochondrial metabolism of neuroactive and vasoactive amines |
| MAPT(158) | Microtubule-associated protein tau | Supports microtubule assembly and stability |
| NEFH(159–160) | Neurofilament heavy polypeptide | Intracellular axonal and dendritic transport, axonal structure |
| PON1, 2,3(161) | Paraoxonase | Hydrolysis of organophosphates |
| PPARGC1A(162) | Peroxisome proliferator-activated receptor gamma, coactivator 1 alpha | Transcriptional coactivator, regulates genes involved in energy metabolism |
| PRPH (163) | Peripherin | Cytoskeletal protein |
| SMN1(164) | Survival of motor neuron 1 | mRNA processing |
| SPAST (165–167) | Spastin | Microtubule function |
| SS18L1 (168–169) | Synovial sarcoma translocation gene on chromosome 18-like 1 | Neuronal chromatin-remodeling, neurite outgrowth |
| TAF15 (94) | TATA box binding protein (TBP)-associated factor | RNA polymerase II gene transcription |
| TMEM106B(170–171) | Transmembrane protein 106B | Lysosomal trafficking, dendrite morphogenesis and maintenance |
| TREM2(172) | Triggering receptor expressed on myeloid cells 2 | Immune system regulation |
| UNC13A(173–174) | Unc-13 homolog A | Synaptic neurotransmitter release |
| VEGF(175) | Vascular endothelial growth factor | Vasculogenesis and angiogenesis factor |
| ZNF512B(176–177) | Zinc finger protein 512B | Regulation of transcription |