PRNP

Summary

PRNP (prion protein (Kanno blood group), HGNC:9449) is a protein-coding gene on chromosome 20p13, encoding Alternative prion protein (F7VJQ1).

The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 5621 — RefSeq curated summary.

At a glance

• Gene–disease (curated): inherited glutathione synthetase deficiency (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 63
• Clinical variants (ClinVar): 681 total — 38 pathogenic, 28 likely-pathogenic
• Phenotypes (HPO): 168
• MANE Select transcript: NM_000311

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9449
Approved symbol	PRNP
Name	prion protein (Kanno blood group)
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	CD230, PRP, AltPrP
Ensembl gene	ENSG00000171867
Ensembl biotype	protein_coding
OMIM	176640
Entrez	5621

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 12 protein_coding

ENST00000379440, ENST00000424424, ENST00000430350, ENST00000457586, ENST00000882184, ENST00000882185, ENST00000882186, ENST00000882187, ENST00000882188, ENST00000967833, ENST00000967834, ENST00000967835

RefSeq mRNA: 6 — MANE Select: NM_000311 NM_000311, NM_001080121, NM_001080122, NM_001080123, NM_001271561, NM_183079

CCDS: CCDS13080

Canonical transcript exons

ENST00000379440 — 2 exons

Exon	Start	End
ENSE00001957346	4686456	4686512
ENSE00003892168	4699211	4701588

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 163.8198 / max 3287.9914, expressed in 1816 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183278	148.0013	1814
187012	33.8498	1820
183277	13.2758	1452
183292	1.1186	563
183280	0.7988	511
183279	0.6152	386
187011	0.0072	2
187010	0.0030	1

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
CA1 field of hippocampus	UBERON:0003881	99.86	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.86	gold quality
pigmented layer of retina	UBERON:0001782	99.78	gold quality
endothelial cell	CL:0000115	99.76	gold quality
orbitofrontal cortex	UBERON:0004167	99.76	gold quality
dorsal root ganglion	UBERON:0000044	99.75	gold quality
pons	UBERON:0000988	99.72	gold quality
trigeminal ganglion	UBERON:0001675	99.72	gold quality
choroid plexus epithelium	UBERON:0003911	99.72	gold quality
substantia nigra pars compacta	UBERON:0001965	99.70	gold quality
germinal epithelium of ovary	UBERON:0001304	99.68	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.68	gold quality
cerebellar vermis	UBERON:0004720	99.66	gold quality
dorsal plus ventral thalamus	UBERON:0001897	99.65	gold quality
superior frontal gyrus	UBERON:0002661	99.64	gold quality
superior vestibular nucleus	UBERON:0007227	99.64	gold quality
parietal lobe	UBERON:0001872	99.60	gold quality
subthalamic nucleus	UBERON:0001906	99.60	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.59	gold quality
lateral globus pallidus	UBERON:0002476	99.59	gold quality
adult organism	UBERON:0007023	99.59	gold quality
occipital lobe	UBERON:0002021	99.58	gold quality
postcentral gyrus	UBERON:0002581	99.58	gold quality
entorhinal cortex	UBERON:0002728	99.58	gold quality
olfactory bulb	UBERON:0002264	99.56	gold quality
primary visual cortex	UBERON:0002436	99.53	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.53	gold quality
parietal pleura	UBERON:0002400	99.52	gold quality
middle temporal gyrus	UBERON:0002771	99.48	gold quality
prefrontal cortex	UBERON:0000451	99.47	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	81.57
E-HCAD-35	yes	51.35
E-HCAD-11	yes	38.00
E-GEOD-134144	yes	32.95
E-MTAB-8410	yes	28.77
E-CURD-46	yes	16.54
E-MTAB-8142	yes	15.84
E-GEOD-70580	no	872.25
E-MTAB-6142	no	312.17
E-CURD-112	no	2.81
E-MTAB-9543	no	2.37
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO3, HES1, HIF1A, MTF1, NFE2L2, NFKBIB, SP1, TP53, XBP1

miRNA regulators (miRDB)

81 targeting PRNP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 40)

• fibrillogenesis of PrP (195-213) (PMID:11559357)
• Huntington disease phenocopy is a familial prion disease (PMID:11593450)
• sporadic–but not variant–Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1 (PMID:11704923)
• Three novel PrP mutants were examined employing this model system and compared with wild type as well as known mutant PrPs (PMID:11756421)
• Molecular dynamics simulations of wild-type and point mutation human prion protein at normal and elevated temperature. (PMID:11775001)
• colocalized with CBP70 in the nuclear compartment of NB4 cells (PMID:11787070)
• expressed on endothelial cells and is released during apoptosis on membrane microparticles in human plasma (PMID:11961239)
• All-trans retinoic acid down-regulates prion protein expression independently of granulocyte maturation. (PMID:11986958)
• Resting paroxysmal nocturnal hemoglobinuria (CD55(-)) platelets were devoid of surface PrPc, but activation of platelets resulted in the surface expression of PrPc. (PMID:12070046)
• PrP was detected on all major human blood cells types except eosinophils, but was not detected as ubiquitously or uniformly on major blood cell types of different animal species. (PMID:12084159)
• PRPc acquires Proteinase K resistance with structural rearrangement, which can be promoted by the presence of a PrP(Sc) template (PMID:12161431)
• Cell-surface prion protein interacts with glycosaminoglycans (PMID:12186633)
• Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy. (PMID:12205650)
• examined the kinetics of folding and unfolding reactions for the recombinant human prion protein C-terminal fragment 90-231; data provide clear evidence for the population of an intermediate on the refolding pathway of the prion protein (PMID:12356762)
• PrP(C) transfer required the GPI anchor and direct cell to cell contact (PMID:12359724)
• Cellular stress up-regulates both the transcription and translation of PrP through interaction with the HSEs on the PrP gene promoter, resulting in an increase in protein synthesis. (PMID:12392052)
• PRNP missense mutations causing familial Creutzfeldt-Jakob disease recapitulate conserved residues in Doppel: a case of molecular mimicry? (PMID:12459456)
• CD34+ cells from paroxysmal nocturnal hemoglobinuria (PNH) patients are deficient in surface expression of cellular prion protein (PrPc). This may be a suitable system to explore the function of membrane PrP(c) in the hematopoietic system. (PMID:12543108)
• NMR structure of the globular domain with residues 121-230 of a variant human prion protein with two disulfide bonds, hPrP(M166C/E221C), shows the same global fold as wild-type hPrP(121-230) (PMID:12547204)
• detail the schematic construction of PrP(Sc) monomeric and dimeric models (PMID:12568340)
• Mutant PrP is associated with neurodegeneration in prion diseases. (PMID:12590162)
• Review. PrPC is a membrane glycoprotein expressed by most tissues and is attached on the cell membrane by a glycosyl-phosphatidylinositol anchor which would be consistent with roles in cell adhesion, ligand uptake, or transmembrane signaling. (PMID:12645301)
• has different biological properties than linked GPI-anchored protein DAF (PMID:12659837)
• Polymorphism of the codon 129 of the prion protein (PrP) gene and neuropathology of cerebral ageing. (PMID:12679875)
• Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Straussler-Scheinker disease. (PMID:12682740)
• Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgene. (PMID:12684540)
• Kuru imposed strong balancing selection on the Fore, essentially eliminating PRNP 129 homozygotes; worldwide PRNP haplotype diversity and coding allele frequencies suggest strong balancing selection at this locus occurred during evolution of modern humans (PMID:12690204)
• observed that PrP106-126 is a chemoattractant for monocyte-derived immature but not mature dendritic cells; results suggest transactivation of sphingosine-1-phosphate-dependent cell motility by prion protein (PMID:12692258)
• findings highlight the role of PrP in copper homeostasis and hint at its possible role as a modulator of synapses regulated by this trace metal (PMID:12694397)
• plasmin cleaves PrP(c) in vitro and the liberated NH(2)-terminal fragment accelerates plasminogen activation (PMID:12719777)
• The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects. (PMID:12796830)
• a specific prion protein fragment has a role in disulfide stability by retarding the rate of fibril formation (PMID:12805563)
• proteinase K-resistant C-terminal fragments of PrP are identified in Creutzfeldt-Jakob disease brains (PMID:12917418)
• endoplasmic reticulum-associated degradation PrP is not converted naturally into a form reminiscent of scrapie PrP and that PrP located in the cytosol retains its protective function against Bax (PMID:12917444)
• interactions between small, highly structured RNAs and human recombinant prion protein (PrP) suggest possible roles of RNAs in the modulation of PrP structure and perhaps disease development (PMID:12946346)
• interconversion of helix 1 of the prion protein is rather representing a barrier than a nucleus for the PrPC–>PrPSc conversion (PMID:12952977)
• the intrinsic properties of PrP-(82-146) are dependent upon the integrity of the C-terminal region and account for the massive deposition of PrP amyloid in GSS (PMID:12970341)
• spontaneous conversion of the recombinant polypeptide corresponding to the Y145Stop variant (huPrP23-144) from a monomeric unordered state to a fibrillar form (PMID:14519851)
• PrPc has a role in the signaling of cell-cell contacts in epithelial cells (PMID:14576159)
• association of a common genetic variation in the prion protein gene with cognitive performance (PMID:14593432)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prnp	ENSMUSG00000079037
rattus_norvegicus	Prnp	ENSRNOG00000021259

Protein

Protein identifiers

Alternative prion protein — F7VJQ1 (reviewed: F7VJQ1, P04156)

Alternative names: AltPrP

All UniProt accessions (4): P04156, A2A2V1, Q53YK7, X6RKS3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Mitochondrion outer membrane.

Tissue specificity. Detected in brain homogenate, primary neurons, and peripheral blood mononuclear cells (at protein level).

Induction. Up-regulated by endoplasmic reticulum stress and proteasomal inhibition.

Miscellaneous. This protein is produced by a bicistronic gene which also produces the major prion protein/PRNP from an overlapping reading frame. The alternative prion protein/AltPrP and PRNP (AC P04156) have no apparent direct functional relation since a mutation that removes the start codon of the AltPrP has no apparent effect on the biology of PRNP. In mouse and hamster, the alternative initiation AUG codon is absent and is replaced by a GUG codon.

Isoforms (2)

UniProt ID	Names	Canonical?
F7VJQ1-1	3, AltPrP	yes
P04156-1	1, PrP

RefSeq proteins (6): NP_000302, NP_001073590, NP_001073591, NP_001073592, NP_001258490, NP_898902 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000817	Prion	Family
IPR020949	Prion_copper_b_octapeptide	Repeat
IPR022416	Prion/Doppel_prot_b-ribbon_dom	Domain
IPR025860	Prion_N	Domain
IPR036924	Prion/Doppel_b-ribbon_dom_sf	Homologous_superfamily

Pfam: PF00377, PF03991, PF11587

UniProt features (89 total): sequence variant 27, strand 19, binding site 12, turn 6, repeat 5, region of interest 4, sequence conflict 3, helix 3, chain 2, glycosylation site 2, transmembrane region 1, signal peptide 1, compositionally biased region 1, propeptide 1, lipid moiety-binding region 1, disulfide bond 1

Structure

Experimental structures (PDB)

70 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
2OL9	X-RAY DIFFRACTION	0.85
7RVE	ELECTRON CRYSTALLOGRAPHY	0.85
7RVJ	ELECTRON CRYSTALLOGRAPHY	1
7RVK	ELECTRON CRYSTALLOGRAPHY	1
7RVL	ELECTRON CRYSTALLOGRAPHY	1
7RVC	ELECTRON CRYSTALLOGRAPHY	1
3MD4	X-RAY DIFFRACTION	1.15
3MD5	X-RAY DIFFRACTION	1.4
4E1H	X-RAY DIFFRACTION	1.4
6PQA	X-RAY DIFFRACTION	1.46
4KML	X-RAY DIFFRACTION	1.5
4N9O	X-RAY DIFFRACTION	1.5
6PQ5	X-RAY DIFFRACTION	1.5
3NHC	X-RAY DIFFRACTION	1.57
3HAK	X-RAY DIFFRACTION	1.8
3HEQ	X-RAY DIFFRACTION	1.8
3NVF	X-RAY DIFFRACTION	1.8
3HER	X-RAY DIFFRACTION	1.85
3NHD	X-RAY DIFFRACTION	1.92
1I4M	X-RAY DIFFRACTION	2
3HES	X-RAY DIFFRACTION	2
3HJX	X-RAY DIFFRACTION	2
4E1I	X-RAY DIFFRACTION	2.03
3HAF	X-RAY DIFFRACTION	2.26
6SV2	X-RAY DIFFRACTION	2.3
6DU9	X-RAY DIFFRACTION	2.33
4DGI	X-RAY DIFFRACTION	2.4
6SUZ	X-RAY DIFFRACTION	2.5
6LNI	ELECTRON MICROSCOPY	2.7
7RL4	ELECTRON MICROSCOPY	2.86

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-F7VJQ1-F1	68.18	0.00
AF-P04156-F1	66.12	0.09

Antibody-complex structures (SAbDab): 6 — 2W9E, 4DGI, 4KML, 4N9O, 6SUZ, 6SV2

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (12): 61; 62; 63; 69; 70; 71; 77; 78; 79; 85; 86; 87

Post-translational modifications (1): 230

Disulfide bonds (1): 179–214

Glycosylation sites (2): 181, 197

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-419037	NCAM1 interactions
R-HSA-9609523	Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

MSigDB gene sets: 967 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_MEMORY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION

GO Biological Process (38): negative regulation of transcription by RNA polymerase II (GO:0000122), intracellular copper ion homeostasis (GO:0006878), response to oxidative stress (GO:0006979), learning or memory (GO:0007611), long-term memory (GO:0007616), negative regulation of protein processing (GO:0010955), protein destabilization (GO:0031648), negative regulation of type II interferon production (GO:0032689), negative regulation of interleukin-17 production (GO:0032700), negative regulation of interleukin-2 production (GO:0032703), intracellular signal transduction (GO:0035556), negative regulation of apoptotic process (GO:0043066), positive regulation of neuron apoptotic process (GO:0043525), negative regulation of activated T cell proliferation (GO:0046007), response to cadmium ion (GO:0046686), positive regulation of calcium-mediated signaling (GO:0050850), negative regulation of T cell receptor signaling pathway (GO:0050860), protein homooligomerization (GO:0051260), regulation of cell cycle (GO:0051726), negative regulation of calcineurin-NFAT signaling cascade (GO:0070885), cellular response to copper ion (GO:0071280), cellular response to xenobiotic stimulus (GO:0071466), positive regulation of protein targeting to membrane (GO:0090314), dendritic spine maintenance (GO:0097062), negative regulation of long-term synaptic potentiation (GO:1900272), regulation of glutamate receptor signaling pathway (GO:1900449), positive regulation of glutamate receptor signaling pathway (GO:1900451), regulation of potassium ion transmembrane transport (GO:1901379), negative regulation of amyloid-beta formation (GO:1902430), negative regulation of dendritic spine maintenance (GO:1902951), negative regulation of amyloid precursor protein catabolic process (GO:1902992), positive regulation of protein localization to plasma membrane (GO:1903078), response to amyloid-beta (GO:1904645), cellular response to amyloid-beta (GO:1904646), regulation of calcium ion import across plasma membrane (GO:1905664), neuron projection maintenance (GO:1990535), regulation of protein localization (GO:0032880), response to copper ion (GO:0046688)

GO Molecular Function (22): amyloid-beta binding (GO:0001540), protease binding (GO:0002020), copper ion binding (GO:0005507), lamin binding (GO:0005521), glycosaminoglycan binding (GO:0005539), microtubule binding (GO:0008017), tubulin binding (GO:0015631), aspartic-type endopeptidase inhibitor activity (GO:0019828), type 5 metabotropic glutamate receptor binding (GO:0031802), signaling receptor activity (GO:0038023), identical protein binding (GO:0042802), ATP-dependent protein binding (GO:0043008), transmembrane transporter binding (GO:0044325), protein-containing complex binding (GO:0044877), protein-folding chaperone binding (GO:0051087), molecular adaptor activity (GO:0060090), molecular function activator activity (GO:0140677), molecular condensate scaffold activity (GO:0140693), cupric ion binding (GO:1903135), cuprous ion binding (GO:1903136), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (19): mitochondrial outer membrane (GO:0005741), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), postsynaptic density (GO:0014069), inclusion body (GO:0016234), extrinsic component of membrane (GO:0019898), dendrite (GO:0030425), nuclear membrane (GO:0031965), terminal bouton (GO:0043195), membrane raft (GO:0045121), extracellular exosome (GO:0070062), postsynapse (GO:0098794), membrane (GO:0016020), side of membrane (GO:0098552)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
NCAM signaling for neurite out-growth	1
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
protein binding	5
negative regulation of cytokine production	3
intracellular anatomical structure	3
cytoplasm	3
membrane	3
binding	2
copper ion binding	2
endomembrane system	2
intracellular membrane-bounded organelle	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
intracellular monoatomic cation homeostasis	1
copper ion homeostasis	1
response to stress	1
behavior	1
cognition	1
memory	1
protein processing	1
negative regulation of proteolysis	1
regulation of protein processing	1
negative regulation of protein maturation	1
regulation of protein stability	1
type II interferon production	1
regulation of type II interferon production	1
interleukin-17 production	1
regulation of interleukin-17 production	1
interleukin-2 production	1
regulation of interleukin-2 production	1
signal transduction	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
positive regulation of apoptotic process	1
regulation of neuron apoptotic process	1
neuron apoptotic process	1
negative regulation of T cell proliferation	1
regulation of activated T cell proliferation	1
activated T cell proliferation	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

BioGRID (2594): PRNP (PCA), PRNP (Affinity Capture-Western), ARF1 (Affinity Capture-Western), PRNP (Two-hybrid), CSNK2A1 (Affinity Capture-MS), ZBED3 (Affinity Capture-MS), YWHAQ (Affinity Capture-MS), PABPC1 (Affinity Capture-MS), PABPC4 (Affinity Capture-MS), HSPD1 (Affinity Capture-MS), CYLD (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), RPSA (Affinity Capture-MS), PSMD2 (Affinity Capture-MS), CYLD (Affinity Capture-Western)

ESM2 similar proteins: A0A1D9BZF0, A0A1M6T247, A6QL64, B0Y8Y8, C6UYI3, E9Q6E9, F7VJQ1, F7VJQ2, F8W0I5, O77733, P04672, P09125, P0CL27, P0CL28, P0CL29, P0CL30, P0CL31, P0DI83, P0DJ88, P0DJ89, P12347, P13492, P20466, P43537, P49170, P58150, P83059, P83060, P84729, P84730, P84976, Q01456, Q196Z8, Q4WW98, Q4ZJZ1, Q4ZJZ3, Q5JPF3, Q5MJ10, Q5SF96, Q69577

Diamond homologs: F7VJQ1, F7VJQ2, F7VJQ3

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
“ER stress”	up-regulates	PRNP
CDK5	“up-regulates quantity”	PRNP	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

681 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	38
Likely pathogenic	28
Uncertain significance	236
Likely benign	263
Benign	36

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1076084	NM_000178.4(GSS):c.922C>T (p.Gln308Ter)	Pathogenic
13394	NM_000311.5(PRNP):c.154_177[6_13]	Pathogenic
13395	NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)	Pathogenic
13396	NM_000311.5(PRNP):c.350C>T (p.Ala117Val)	Pathogenic
13398	NM_000311.5(PRNP):c.598G>A (p.Glu200Lys)	Pathogenic
13401	NM_000311.5(PRNP):c.593T>C (p.Phe198Ser)	Pathogenic
13404	NM_000311.5(PRNP):c.314C>T (p.Pro105Leu)	Pathogenic
13407	NM_000311.5(PRNP):c.547A>G (p.Thr183Ala)	Pathogenic
13412	NM_000311.5(PRNP):c.560A>G (p.His187Arg)	Pathogenic
13413	NM_000311.5(PRNP):c.313C>A (p.Pro105Thr)	Pathogenic
13414	NM_000311.5(PRNP):c.398C>T (p.Ala133Val)	Pathogenic
21147	NM_000311.5(PRNP):c.435T>G (p.Tyr145Ter)	Pathogenic
21148	NM_000311.5(PRNP):c.478C>T (p.Gln160Ter)	Pathogenic
2702032	NM_000178.4(GSS):c.1045del (p.Gln349fs)	Pathogenic
2714497	NM_000178.4(GSS):c.1103_1104del (p.Glu368fs)	Pathogenic
2716943	NM_000178.4(GSS):c.325C>T (p.Gln109Ter)	Pathogenic
2725232	NM_000178.4(GSS):c.882C>A (p.Cys294Ter)	Pathogenic
2736963	NM_000178.4(GSS):c.374G>A (p.Arg125His)	Pathogenic
2756529	NM_000178.4(GSS):c.527del (p.Ala176fs)	Pathogenic
2792061	NM_000178.4(GSS):c.587G>A (p.Trp196Ter)	Pathogenic
2793305	NM_000178.4(GSS):c.658C>T (p.Gln220Ter)	Pathogenic
2815837	NM_000311.5(PRNP):c.350_351inv (p.Ala117Val)	Pathogenic
2858234	NM_000178.4(GSS):c.547_550del (p.Asn183fs)	Pathogenic
2877418	NM_000178.4(GSS):c.49G>T (p.Glu17Ter)	Pathogenic
2903932	NM_000178.4(GSS):c.588G>A (p.Trp196Ter)	Pathogenic
2976093	NM_000178.4(GSS):c.105del (p.Ser36fs)	Pathogenic
3014333	NM_000178.4(GSS):c.1020dup (p.Leu341fs)	Pathogenic
3248261	NC_000020.10:g.(?33516631)(33517413_?)del	Pathogenic
3637395	NM_000178.4(GSS):c.37C>T (p.Gln13Ter)	Pathogenic
3699755	NM_000178.4(GSS):c.14G>A (p.Trp5Ter)	Pathogenic

SpliceAI

328 predictions. Top by Δscore:

Variant	Effect	Δscore
20:4699210:GAGCA:G	acceptor_gain	1.0000
20:4686512:GGT:G	donor_loss	0.9900
20:4686513:G:GA	donor_loss	0.9900
20:4686514:T:G	donor_loss	0.9900
20:4699209:A:AG	acceptor_gain	0.9900
20:4699210:G:GG	acceptor_gain	0.9900
20:4699210:GA:G	acceptor_gain	0.9900
20:4699210:GAGC:G	acceptor_gain	0.9900
20:4691890:G:C	acceptor_gain	0.9800
20:4699205:TTGCA:T	acceptor_loss	0.9700
20:4699208:CA:C	acceptor_loss	0.9700
20:4699208:CAG:C	acceptor_gain	0.9700
20:4699209:AGA:A	acceptor_gain	0.9700
20:4699209:AGAGC:A	acceptor_loss	0.9700
20:4699210:G:GT	acceptor_loss	0.9700
20:4699210:GAG:G	acceptor_gain	0.9700
20:4686509:GCAG:G	donor_gain	0.9400
20:4691895:T:G	acceptor_gain	0.9400
20:4693185:T:TA	donor_gain	0.9400
20:4693187:T:TG	donor_gain	0.9300
20:4699202:A:AG	acceptor_gain	0.9100
20:4693184:GTCT:G	donor_gain	0.9000
20:4699206:TGCAG:T	acceptor_gain	0.9000
20:4686513:G:GG	donor_gain	0.8900
20:4699206:T:TA	acceptor_gain	0.8800
20:4697449:A:T	donor_gain	0.8700
20:4699203:T:G	acceptor_gain	0.8700
20:4693186:C:A	donor_gain	0.8400
20:4686508:GGCAG:G	donor_gain	0.8300
20:4686509:GCAGG:G	donor_gain	0.8300

AlphaMissense

1678 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:4699756:G:A	C179Y	1.000
20:4699757:C:G	C179W	1.000
20:4699860:T:A	C214S	1.000
20:4699861:G:C	C214S	1.000
20:4699862:T:G	C214W	1.000
20:4699744:T:C	F175S	0.999
20:4699744:T:G	F175C	0.999
20:4699755:T:A	C179S	0.999
20:4699755:T:C	C179R	0.999
20:4699756:G:C	C179S	0.999
20:4699756:G:T	C179F	0.999
20:4699768:C:T	T183I	0.999
20:4699860:T:C	C214R	0.999
20:4699861:G:A	C214Y	0.999
20:4699861:G:T	C214F	0.999
20:4699573:C:A	A118D	0.998
20:4699743:T:C	F175L	0.998
20:4699745:T:A	F175L	0.998
20:4699745:T:G	F175L	0.998
20:4699768:C:A	T183K	0.998
20:4699768:C:G	T183R	0.998
20:4699849:T:A	V210D	0.998
20:4699642:T:C	F141S	0.997
20:4699642:T:G	F141C	0.997
20:4699668:T:G	Y150D	0.997
20:4699825:A:T	D202V	0.997
20:4699611:G:A	G131R	0.996
20:4699611:G:C	G131R	0.996
20:4699641:T:C	F141L	0.996
20:4699643:C:A	F141L	0.996

dbSNP variants (sampled 300 via entrez): RS1000275839 (20:4697290 A>G), RS1000293454 (20:4690134 C>T), RS1000601097 (20:4687193 C>T), RS1000896399 (20:4694011 C>A), RS1000904029 (20:4700987 TTC>T), RS1000933016 (20:4701353 G>A), RS1001063640 (20:4701992 A>G), RS1001167786 (20:4686844 C>T), RS1001546486 (20:4687274 T>C,G), RS1001848976 (20:4698429 G>A), RS1002121529 (20:4695820 T>G), RS1002155235 (20:4697310 A>G), RS1002155642 (20:4684855 G>C,T), RS1002366211 (20:4691454 T>C), RS1002553096 (20:4698718 G>A)

Disease associations

OMIM: gene MIM:176640 | disease phenotypes: MIM:266130, MIM:603218, MIM:231900, MIM:137440, MIM:600072, MIM:123400, MIM:606688, MIM:245300, MIM:181500

GenCC curated gene-disease

Disease	Classification	Inheritance
Gerstmann-Straussler-Scheinker syndrome	Definitive	Autosomal dominant
inherited glutathione synthetase deficiency	Definitive	Autosomal recessive
inherited Creutzfeldt-Jakob disease	Strong	Autosomal dominant
Huntington disease-like 1	Strong	Autosomal dominant
glutathione synthetase deficiency with 5-oxoprolinuria	Strong	Autosomal recessive
familial Alzheimer-like prion disease	Supportive	Autosomal dominant
PrP systemic amyloidosis	Supportive	Autosomal dominant
fatal familial insomnia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
inherited glutathione synthetase deficiency	Definitive	AR

Mondo (15): glutathione synthetase deficiency with 5-oxoprolinuria (MONDO:0009947), Huntington disease-like 1 (MONDO:0011299), inherited glutathione synthetase deficiency (MONDO:0017909), glutathione synthetase deficiency without 5-oxoprolinuria (MONDO:0009284), vascular dementia (MONDO:0004648), Gerstmann-Straussler-Scheinker syndrome (MONDO:0007656), fatal familial insomnia (MONDO:0010808), inherited Creutzfeldt-Jakob disease (MONDO:0007403), spongiform encephalopathy with neuropsychiatric features (MONDO:0011703), autism spectrum disorder (MONDO:0005258), kuru, susceptibility to (MONDO:0009500), congenital portosystemic shunt (MONDO:0018811), schizophrenia (MONDO:0005090), familial Alzheimer-like prion disease (MONDO:0017233), PrP systemic amyloidosis (MONDO:0018339)

Orphanet (14): Glutathione synthetase deficiency with 5-oxoprolinuria (Orphanet:289846), Huntington disease-like 1 (Orphanet:157941), Glutathione synthetase deficiency (Orphanet:32), Glutathione synthetase deficiency without 5-oxoprolinuria (Orphanet:289849), Gerstmann-Straussler-Scheinker syndrome (Orphanet:356), Fatal familial insomnia (Orphanet:466), Sporadic Creutzfeldt-Jakob disease (Orphanet:204), Inherited human prion disease (Orphanet:280400), Inherited Creutzfeldt-Jakob disease (Orphanet:282166), Acquired Creutzfeldt-Jakob disease (Orphanet:454700), Kuru (Orphanet:454745), Congenital portosystemic shunt (Orphanet:480531), NON RARE IN EUROPE: Autism (Orphanet:106), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

168 total (30 of 168 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000016	Urinary retention
HP:0000298	Mask-like facies
HP:0000496	Abnormality of eye movement
HP:0000504	Abnormality of vision
HP:0000505	Visual impairment
HP:0000514	Slow saccadic eye movements
HP:0000570	Abnormal saccadic eye movements
HP:0000580	Pigmentary retinopathy
HP:0000605	Supranuclear gaze palsy
HP:0000617	Abnormality of ocular smooth pursuit
HP:0000639	Nystagmus
HP:0000651	Diplopia
HP:0000708	Atypical behavior
HP:0000709	Psychosis
HP:0000710	Hyperorality
HP:0000711	Restlessness
HP:0000712	Emotional lability
HP:0000716	Depression
HP:0000718	Aggressive behavior
HP:0000726	Dementia
HP:0000736	Short attention span
HP:0000737	Irritability
HP:0000738	Hallucinations
HP:0000739	Anxiety
HP:0000741	Apathy
HP:0000746	Delusion
HP:0000750	Delayed speech and language development
HP:0000751	Personality changes

GWAS associations

63 associations (top):

Study	Trait	p-value
GCST000294_2	Creutzfeldt-Jakob disease	2.000000e-21
GCST000693_6	Platelet aggregation	2.000000e-06
GCST001334_1	Creutzfeldt-Jakob disease (variant)	3.000000e-18
GCST001334_2	Creutzfeldt-Jakob disease (variant)	5.000000e-07
GCST001366_1	Prion diseases	7.000000e-07
GCST001378_9	Hemostatic factors and hematological phenotypes	4.000000e-34
GCST002878_1	Creutzfeldt-Jakob disease (sporadic)	8.000000e-09
GCST003871_13	QRS complex (Cornell)	5.000000e-11
GCST004501_125	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	3.000000e-06
GCST004502_1	Waist circumference adjusted for BMI (smoking interaction)	2.000000e-06
GCST005956_31	Waist-to-hip ratio adjusted for BMI	8.000000e-08
GCST005958_16	Waist-to-hip ratio adjusted for BMI (age >50)	6.000000e-06
GCST005962_40	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-08
GCST007948_1	KANNO antigen negativity	3.000000e-08
GCST008058_164	Estimated glomerular filtration rate	1.000000e-44
GCST008103_149	Bipolar disorder	3.000000e-06
GCST008163_394	Height	2.000000e-06
GCST010142_10	Fish- and plant-related diet	8.000000e-12
GCST010796_3401	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-21
GCST010796_3402	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-20
GCST010796_3403	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-21
GCST010796_3404	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-21
GCST010796_3405	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-21
GCST010796_3406	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-22
GCST010796_3407	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-22
GCST010796_3408	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-22
GCST010796_3409	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-23
GCST010796_3410	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-22
GCST010796_3411	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-23
GCST010796_3412	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-22

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004503	hematological measurement
EFO:0004633	protein C measurement
EFO:1000656	sporadic Creutzfeld Jacob disease
EFO:0005054	QRS complex
EFO:0007742	QRS amplitude
EFO:0004318	smoking behavior
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0009949	KANNO antigen measurement
EFO:0008111	diet measurement
EFO:0004327	electrocardiography
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D015140	Dementia, Vascular	C10.228.140.300.400; C10.228.140.300.510.800.500; C10.228.140.380.230; C10.228.140.695.500; C14.907.137.126.372.500; C14.907.253.560.350.500; F03.615.400.350
D034062	Insomnia, Fatal Familial	C01.207.800.392; C10.228.228.800.392; C10.574.843.512; C10.886.425.800.800.400
C535800	Amyloidosis, Cerebral, with Spongiform Encephalopathy (supp.)
C536835	Glutathione synthetase deficiency (supp.)
C566398	Huntington Disease-Like 1 (supp.)
C564678	Spongiform Encephalopathy with Neuropsychiatric Features (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs17309872	ACSS2, GSS	3	3.00	1	carboplatin;cisplatin;docetaxel;gemcitabine;paclitaxel

PubChem BioAssay actives

7 with measured affinity, of 167 total; 7 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-N-(6-chloro-2-methoxyacridin-9-yl)-1-N,1-N-diethylpentane-1,4-diamine	161627: Half maximal inhibition of Prion protein PrPsc formation was assayed in ScN2a cells	ec50	0.3000	uM
Chlorpromazine	161627: Half maximal inhibition of Prion protein PrPsc formation was assayed in ScN2a cells	ec50	2.0000	uM
Chloroquine	161627: Half maximal inhibition of Prion protein PrPsc formation was assayed in ScN2a cells	ec50	4.0000	uM
N,N-dimethyl-3-phenothiazin-10-ylpropan-1-amine	161627: Half maximal inhibition of Prion protein PrPsc formation was assayed in ScN2a cells	ec50	5.0000	uM
Acepromazine	161627: Half maximal inhibition of Prion protein PrPsc formation was assayed in ScN2a cells	ec50	5.0000	uM
Promethazine	161627: Half maximal inhibition of Prion protein PrPsc formation was assayed in ScN2a cells	ec50	8.0000	uM
Imipramine	161627: Half maximal inhibition of Prion protein PrPsc formation was assayed in ScN2a cells	ec50	10.0000	uM

CTD chemical–gene interactions

112 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Copper	affects folding, affects reaction, affects binding, increases reduction, affects cotreatment (+6 more)	15
Valproic Acid	affects cotreatment, increases expression	8
sodium arsenite	affects cotreatment, increases abundance, increases expression, affects expression, decreases expression	7
bisphenol A	increases expression, affects expression, decreases expression	4
Tretinoin	decreases expression, increases expression	4
trichostatin A	affects cotreatment, increases expression	3
Acetaminophen	increases expression	3
Air Pollutants	increases expression, affects expression, increases abundance	3
Estradiol	affects expression, affects cotreatment, increases expression	3
Tobacco Smoke Pollution	affects expression, increases expression	3
Copper Sulfate	affects binding, increases expression, affects localization, increases uptake, decreases reaction	3
methylmercuric chloride	increases expression	2
perfluorooctanoic acid	increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Aerosols	increases expression	2
Oxygen	decreases reaction, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cyclosporine	increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
graphene oxide	decreases expression	1
ethylbenzene	increases expression	1
methylselenic acid	increases expression	1
3,4-dichloroaniline	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
zinc chromate	increases expression, increases abundance	1

Cellosaurus cell lines

22 cell lines: 18 induced pluripotent stem cell, 3 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0N79	AG09950	Transformed cell line	Male
CVCL_D2WC	CJD2	Induced pluripotent stem cell	Female
CVCL_D3BK	CJD2CR	Induced pluripotent stem cell	Female
CVCL_D3BL	CJD13	Induced pluripotent stem cell	Female
CVCL_D3BM	CJD13CR	Induced pluripotent stem cell	Female
CVCL_D3BP	CJD29	Induced pluripotent stem cell	Female
CVCL_D3BQ	CJD3	Induced pluripotent stem cell	Female
CVCL_D3BR	CJD4	Induced pluripotent stem cell	Male
CVCL_D3BS	CJD40	Induced pluripotent stem cell	Female
CVCL_D3BT	CJD5	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00165763	PHASE4	COMPLETED	Efficacy and Safety of Donepezil Hydrochloride (Aricept) in Vascular Dementia
NCT00847860	PHASE4	COMPLETED	Cilostazol Verse Asprin for Vascular Dementia in Poststroke Patients With White Matter Lesions
NCT00947531	PHASE4	COMPLETED	A Clinical Trial to Evaluate the Safety and Efficacy of 20 ml Cerebrolysin in Patients With Vascular Dementia
NCT00950430	PHASE4	ENROLLING_BY_INVITATION	Imaging of Brain Amyloid Plaques in the Aging Population
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT07482085	PHASE3	NOT_YET_RECRUITING	Efavirenz for the Treatment of Creutzfeldt-Jakob Disease
NCT00099216	PHASE3	COMPLETED	Efficacy and Safety of Rivastigmine Capsules in Patients With Probable Vascular Dementia
NCT00130338	PHASE3	COMPLETED	Rivastigmine Capsules in Patients With Probable Vascular Dementia
NCT00209456	PHASE3	COMPLETED	Dopamine Transporter Scintigraphy Imaging (DAT-Imaging) in Patients With Lewy Body Dementia
NCT00249158	PHASE3	COMPLETED	A Study of the Effectiveness and Safety of Risperidone in the Treatment of Behavioral Disturbances in Patients With Dementia
NCT00261573	PHASE3	COMPLETED	A Study of the Safety and Effectiveness of Galantamine Versus Placebo in the Treatment of Patients With Vascular Dementia or Mixed Dementia
NCT00621647	PHASE3	COMPLETED	Seroquel- Agitation Associated With Dementia
NCT02453932	PHASE3	COMPLETED	Efficacy and Safety of Tianzhi Granule in Mild to Moderate Vascular Dementia
NCT03682185	PHASE3	COMPLETED	The Healthy Patterns Sleep Study
NCT03789760	PHASE3	COMPLETED	The Clinical Trial of Chinese Herbal Medicine (SaiLuoTong) Capsule
NCT03804229	PHASE3	ACTIVE_NOT_RECRUITING	Efficacy and Safety of Butylphthalide Soft Capsule for the Treatment of Vascular Dementia
NCT03986424	PHASE3	COMPLETED	Local Study of Akatinol Memantine in VaD in Russia
NCT04552041	PHASE3	COMPLETED	Prospekta in the Treatment of Cognitive, Behavioral and Psychiatric Disorders in Patients With Vascular Dementia.
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders