Table III.
Protein | Pathway | Association with HSA21 protein | Possible Down syndrome phenotype | Ref. |
---|---|---|---|---|
ASS1, SMS, GLUD1 | Proline and arginine metabolism | Unknown | Unknown | 31 |
PDIA3, CALR, CTSB | Antigen presentation | Unknown | Immune defects | 31 |
RCN1 | NFAT/calcineurin | DSCR1 | Developmental defects | 38, 39 |
FASCIN-1, HSPB1 (HSP27), ANXA5, GSTO1 | Cytoskeletal remodeling and regulation | TIAM1 and either DSCR3, DSCR5, TTC3, and/or DYRK1A | Unknown | 11, 40 |
LRPAP1, LRP2 | Aβ clearance | APP | Alzheimer disease | 34, 35 |
CTSB | APP cleavage (β-secretase action) | APP | Alzheimer disease | 33 |