Table 1 A Glossary of all gene names cited in this review including the official symbol, common names, known function, and potential association with each of the four neurodegenerative diseases: Aicardi-Goutieres Syndrome (AGS), Amyotrophic Lateral Sclerosis (ALS), Alzheimer’s Disease (AD), and Multiple Sclerosis (MS). The name of the associated neurodegenerative disease is enclosed in parentheses if a disease-associated mutation has not been identified in the Online Mendelian Inheritance in Man (OMIM) database, but has still been implicated due to other experimental evidence discussed in this review
From: Diseases of the nERVous system: retrotransposon activity in neurodegenerative disease
Gene symbol | Gene name | Synonym | Known function | Associated disordera |
|---|---|---|---|---|
ADAR | Adenosine Deaminase, RNA Specific | Enzyme converting adenosine to inosine by deamination | AGS | |
APP | Amyloid Beta Precursor Protein | A-beta | Cell surface receptor with roles in neurite growth, neuronal adhesion and axonogenesis | AD |
ARC | Activity Regulated Cytoskeleton Associated Protein | Regulator of synaptic plasticity that mediate intercellular RNA transfer in the nervous system. | (AD) | |
ASH1L | ASH1 Like Histone Lysine Methyltransferase | ASH1 | Histone methyltransferase specifically methylating “Lys-36” of histone H3 | |
BPTF | Bromodomain PHD Finger Transcription Factor | Histone-binding component of nucleosome-remodeling factor | ||
C9ORF72 | C9orf72-SMCR8 Complex Subunit Chromosome 9 Open Reading Frame 72 | Component of the C9orf72-SMCR8 complex that has guanine nucleotide exchange factor activity and regulates autophagy | ALS | |
CGAS | Cyclic GMP-AMP Synthase | Catalyzes formation of cyclic GMP-AMP (cGAMP) from ATP and GTP | ||
DDX58 | DExD/H-Box Helicase 58 | RIG-I | Cytoplasmic sensor of viral nucleic acids | |
ERVW-1 | Endogenous Retrovirus Group W Member 1, Envelope | Induces trophoblast fusion and formation of a placental syncytium | (MS) | |
ERVW-2 | Endogenous Retrovirus Group W Member 2 | None reported | (MS) | |
IFIH1 | Interferon Induced With Helicase C Domain 1 | MDA5 | Cytoplasmic sensor of viral nucleic acids | AGS |
IRF1 | Interferon Regulatory Factor 1 | Activator of genes involved in both innate and acquired immune responses | ||
PIWIL1 | Piwi Like RNA-Mediated Gene Silencing 1 | Endoribonuclease that represses transposable elements in postnatal germ cells | ||
RNASEH2A | Ribonuclease H2 Subunit A | Catalytic subunit of RNase H2 that degrades RNA of RNA:DNA hybrids | AGS | |
RNASEH2B | Ribonuclease H2 Subunit B | Non catalytic subunit of RNase H2 | AGS | |
RNASEH2C | Ribonuclease H2 Subunit C | Non catalytic subunit of RNase H2 | AGS | |
SAMHD1 | SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1 | Host restriction factor involved in defense response to virus | AGS | |
TARDBP | TAR DNA Binding Protein | TDP-43 | RNA-binding protein involved in various steps of RNA biogenesis and processing | ALS |
TMEM173 | Transmembrane Protein 173 | STING | Receptor that detects cytosolic nucleic acids | |
TNF | Tumor Necrosis Factor | TNF-alpha | Pro-inflammatory cytokine | |
TNFSF14 | Tumor Necrosis Factor Superfamily Member 14 | LIGHT | TNF superfamily ligand | |
TREX1 | Three Prime Repair Exonuclease 1 | 3′-to-5′ DNA exonuclease | AGS |