Table 2.
Genes implicated in DS neuronal phenotypic features
| Gene | Name | Protein significance | References |
|---|---|---|---|
| APP | Amyloid Beta Precursor Protein | Neurite outgrowth and synaptogenesis, accumulation of amyloid-β (Aβ) peptide | Lazarov and Demars (2012), Lu et al. (2011, and Nguyen (2019) |
| BACE2 | Beta-Secretase 2 | β-site APP-cleaving enzyme 1 (BACE1) homologue, which may influence the onset of dementia in people with DS | Barbiero et al. (2003) and Mok et al. (2014) |
| DSCR1 | Down Syndrome Critical Region 1/ Regulator Of Calcineurin 1 | Encodes a gene involved in calcineurin-dependent signaling pathways (Central Neural System Development) inhibition | Lee et al. (2009) and Hoeffer et al. (2007) |
| DYRK1A | Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A | A member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family involved in regulation of gene expression, cell cycle controlling processes, formation, and maturation of dendritic spines from dendrites | Duchon and Herault (2016) and Galceran et al. (2003) |
| ERBB3 | Erb-B2 Receptor Tyrosine Kinase 3 | A member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases | Olmos-Serrano et al. (2016) |
| EVI2A | Ecotropic Viral Integration Site 2A | Complex of the cellular membrane, function as part of a cell-surface receptor | Olmos-Serrano et al. (2016) |
| FABP7 | Fatty Acid Binding Protein 7 | Encodes a protein that binds long-chain fatty acids and other hydrophobic ligands, the establishment of the radial glial fiber in the developing brain | Sánchez-Font et al. (2003) |
| GFAP | Glial Fibrillary Acidic Protein | Glial fibrillary acidic protein synthesis, intermediate filament family of proteins | Baburamani et al. (2020) |
| MYRF | Myelin Regulatory Factor | Membrane-bound part remains attached to the endoplasmic reticulum membrane following cleavage | Olmos-Serrano et al. (2016) |
| NRIP1 | Nuclear Receptor Interacting Protein 1 | Interaction with the hormone-dependent activation of nuclear receptors (modulation of transcriptional activity of the estrogen receptor) | Izzo et al. (2014) |
| OPALIN | Oligodendrocytic Myelin Paranodal and Inner Loop Protein | Central nervous system-specific myelin protein that increase myelin genes expression during oligodendrocyte differentiation | Olmos-Serrano et al. (2016) |
| PLD1 | Phospholipase D1 | Phospholipase selective for phosphatidylcholine | Olmos-Serrano et al. (2016) |
| RTKN | Rhotekin | Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis | Olmos-Serrano et al. (2016) |
| TAGLN2 | Transgelin 2 | Smooth muscle differentiation | Sobol et al. (2019) |
| TMEM63A | Transmembrane protein 63A | Osmosensitive calcium-permeable cation channel | Moldrich et al. (2008) |
| VIM | Vimentin | Filament protein intermediation | Baburamani et al. (2020) |