| Human | NPAS4 | 266743 | neuronal PAS domain protein 4 | a novel NXF signaling system on neural gene promoter may be a molecular target of the adverse effects of Sim2 in the mental retardation of Down's syndrome |
| Human | BAGE2 | 85319 | B melanoma antigen family, member 2 | Gene dosage change of BAGE2 is associated with Robertsonian Down syndrome |
| Human | PRDM16 | 63976 | PR domain containing 16 | RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance |
| Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | Infants occasionally mistaken as having Down syndrome |
| Human | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis, class P | Results in mouse suggest that this is the only gene from the Down Syndrome Critical Region expressed in the developing tongue and that the encoded protein may be involved in pathophysiology of tongue malformation seen in Down syndrome |
| Human | COPS4 | 51138 | COP9 signalosome subunit 4 | Level in fetal Down syndrome brain found to be comparable to that of controls |
| Human | MTHFD1L | 25902 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like | Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain at the early second trimester may indicate abnormal folate metabolism and may reflect folate deficiency |
| Human | BACE2 | 25825 | beta-site APP-cleaving enzyme 2 | Analysis revealed a 2.6-fold increase in BACE-2 mRNA levels in Down syndrome brains compared to the control group; increased secretion of BACE-2 by cultured fibroblasts and neural stem cells from Down syndrome patients was noted BACE2is not involved in the Alzheimer dissease(AD)pathogenesis of Down syndrome (DS) patients; instead, therapeutic interventions that potentiate BACE2 may prevent AD pathogenesis |
| Human | BACE1 | 23621 | beta-site APP-cleaving enzyme 1 | altered cholesterol metabolism and amyloid precursor protein trafficking mediated by ABC transporter 8 may contribute to the accelerated onset of Alzheimer's disease neuropathology in Down syndrome Novel molecular mechanism by which Alzheimer's disease(AD) develops in Down syndrome(DS) and support the therapeutic potential of inhibiting BACE1 in AD and DS |
| Human | IMMT | 10989 | inner membrane protein, mitochondrial | Data show that the nuclear matrix protein matrin 3, cytoskeletal motor protein HMP, and the circadian clock protein lark were significantly decreased in fetal Down syndrome brain |
| Human | PRDX3 | 10935 | peroxiredoxin 3 | Protein levels of Prx-III, a mitochondrial protein were significantly decreased in Alzheimer Disease and Down Syndrome The level of peroxiredoxin 3 is decreased in the frontal cortex of patients with Down syndrome and Pick's disease |
| Human | ARPP19 | 10776 | cAMP-regulated phosphoprotein, 19kDa | Decreased levels of ARPP-19 and PKA in brains of Down syndrome and Alzheimer's disease |
| Human | GNLY | 10578 | granulysin | The megakaryoblastic leukemia cell line CMK, from a Down's syndromept, expressed granulysin mRNA, suggesting that GNLY is occasionally present in immature multilineage cells or may be characteristic of leukemic cells obtained from Down's syndrome pts |
| Human | DPYSL4 | 10570 | dihydropyrimidinase-like 4 | Aberrant expression of dihydropyrimidinase related proteins-2,-3 and -4 in fetal Down syndrome brain |
| Human | GNB2L1 | 10399 | guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 | Aberrant expression of signaling-related proteins 14-3-3 gamma and RACK1 in fetal Down syndrome brain (trisomy 21).(RACK1 or PROTEIN KINASE C RECEPTOR) |
| Human | RCAN2 | 10231 | regulator of calcineurin 2 | TEF3 mediates the expression of Down syndrome candidate region 1 isoform 1 (DSCR1-1L) in endothelial cells |
| Human | DOPEY2 | 9980 | dopey family member 2 | C21orf5 selective expression in the key brain structures for learning and memory suggests that C21orf5 overexpression could participate in mental retardation pathogenesis in Down syndrome patients The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in Down syndrome |
| Human | PHYHIP | 9796 | phytanoyl-CoA 2-hydroxylase interacting protein | PAHX-AP1 may contribute to new cellular functions of DYRK1A and suggest that PAHX-AP1 may be involved in the development of neurological abnormalities observed in Down syndrome patients |
| Human | ABCG1 | 9619 | ATP-binding cassette, sub-family G (WHITE), member 1 | altered cholesterol metabolism and amyloid precursor protein trafficking mediated by ABCG1 may contribute to the accelerated onset of Alzheimer's disease neuropathology in Down syndrome |
| Human | PRDX6 | 9588 | peroxiredoxin 6 | The significant increase in peroxiredoxin 6 level in frontal cortex of patients with Pick's disease is useful in discriminating it from Down syndrome/Alzheimer's disease |
| Human | ADAMTS1 | 9510 | ADAM metallopeptidase with thrombospondin type 1 motif, 1 | ADAMTS-1-immunoreactivity was manifold increased in brain with Down syndrome and neurodegeneration |
| Human | MAP3K14 | 9020 | mitogen-activated protein kinase kinase kinase 14 | NF-kappaB-inducing kinase phosphorylates and blocks the degradation of Down syndrome candidate region 1 |
| Human | TNFSF10 | 8743 | tumor necrosis factor (ligand) superfamily, member 10 | In Down Syndrome placentas, an inverse relationship between the expression levels of keratin-8 and TRAIL was observed |
| Human | PDXK | 8566 | pyridoxal (pyridoxine, vitamin B6) kinase | Pyridoxal kinase expression was compared in fetal Down syndrome (DS) brain and controls; PDXK levels were found to be similar |
| Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | Infants occasionally mistaken as having Down syndrome |
