PSEN1 - presenilin 1 Gene

Also Known as AD3; FAD; PS1; PS-1; S182; PSNL1; ACNINV3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5663

About PSEN1

Cytogenetic location: 14q24.2 Genomic coordinates (GRCh38): 14:73,136,417-73,223,691 (from NCBI)

This gene has 88 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 11 phenotypes. Ubiquitous expression in colon (RPKM 14.6), small intestine (RPKM 14.0) and 25 other tissues.

Summary

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease Enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]

PSEN1 Products (2)

mRNA	Protein	Name
NM_000021.4	NP_000012.1	presenilin-1 isoform I-467
NM_007318.3	NP_015557.2	presenilin-1 isoform I-463

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	26094765	GOA
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	10551805	GOA
enables aspartic endopeptidase activity, intramembrane cleaving	IDA IDA: Inferred from direct assay	26280335	GOA
enables aspartic endopeptidase activity, intramembrane cleaving	IMP IMP: Inferred from mutant phenotype	17428795	GOA
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	9632714	GOA
enables calcium channel activity	IMP IMP: Inferred from mutant phenotype	16959576	GOA
enables endopeptidase activity	IDA IDA: Inferred from direct assay	8755489	GOA
enables endopeptidase activity	IGI IGI: Inferred from genetic interaction	12763021	GOA
enables endopeptidase activity	IMP IMP: Inferred from mutant phenotype	12297508	GOA
enables growth factor receptor binding	IPI IPI: Inferred from physical interaction	26094765	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9223340	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	25542424	GOA
involved in Notch receptor processing	IDA IDA: Inferred from direct assay	27608597	GOA
involved in amyloid precursor protein catabolic process	IDA IDA: Inferred from direct assay	27608597	GOA
involved in amyloid precursor protein catabolic process	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in amyloid precursor protein catabolic process	IMP IMP: Inferred from mutant phenotype	12297508	GOA
involved in amyloid precursor protein metabolic process	IDA IDA: Inferred from direct assay	26280335	GOA
involved in amyloid-beta formation	IDA IDA: Inferred from direct assay	27608597	GOA
involved in amyloid-beta formation	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in amyloid-beta formation	IMP IMP: Inferred from mutant phenotype	12297508	GOA
involved in astrocyte activation	IGI IGI: Inferred from genetic interaction	20445063	GOA
involved in astrocyte activation involved in immune response	IGI IGI: Inferred from genetic interaction	23152628	GOA
acts upstream of or within cell-cell adhesion	IMP IMP: Inferred from mutant phenotype	11953314	GOA
involved in cellular response to amyloid-beta	IGI IGI: Inferred from genetic interaction	23152628	GOA
acts upstream of or within endoplasmic reticulum calcium ion homeostasis	IDA IDA: Inferred from direct assay	17431506	GOA
involved in endoplasmic reticulum calcium ion homeostasis	IGI IGI: Inferred from genetic interaction	16959576	GOA
involved in endoplasmic reticulum calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	25394380	GOA
involved in learning or memory	IGI IGI: Inferred from genetic interaction	24012003	GOA
involved in membrane protein ectodomain proteolysis	IDA IDA: Inferred from direct assay	15274632	GOA
involved in memory	IGI IGI: Inferred from genetic interaction	11880515	GOA
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	10805794	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	10508860	GOA
involved in negative regulation of core promoter binding	IMP IMP: Inferred from mutant phenotype	10508860	GOA
involved in negative regulation of gene expression	IGI IGI: Inferred from genetic interaction	28008308	GOA
NOT involved in negative regulation of low-density lipoprotein receptor activity	IGI IGI: Inferred from genetic interaction	20005821	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	10508860	GOA
involved in neuron projection maintenance	IGI IGI: Inferred from genetic interaction	20445063	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	23794287	GOA
involved in positive regulation of amyloid fibril formation	IGI IGI: Inferred from genetic interaction	11880515	GOA
involved in positive regulation of dendritic spine development	IMP IMP: Inferred from mutant phenotype	21951279	GOA
involved in positive regulation of gene expression	IGI IGI: Inferred from genetic interaction	28008308	GOA
involved in positive regulation of glycolytic process	IGI IGI: Inferred from genetic interaction	29061364	GOA
involved in positive regulation of protein import into nucleus	IMP IMP: Inferred from mutant phenotype	10508860	GOA
involved in positive regulation of tumor necrosis factor production	IGI IGI: Inferred from genetic interaction	29061364	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	15274632	GOA
involved in protein processing	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in protein processing	IMP IMP: Inferred from mutant phenotype	12297508	GOA
involved in regulation of gene expression	IGI IGI: Inferred from genetic interaction	26200696	GOA
involved in regulation of neuron projection development	IMP IMP: Inferred from mutant phenotype	15004326	GOA
involved in regulation of phosphorylation	IDA IDA: Inferred from direct assay	9689133	GOA
involved in synapse organization	IGI IGI: Inferred from genetic interaction	24012003	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	9246482	GOA
located in aggresome	IDA IDA: Inferred from direct assay	21143716	GOA
located in centrosome	IDA IDA: Inferred from direct assay	9298903	GOA
is active in dendrite	IDA IDA: Inferred from direct assay	24012003	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	9246482	GOA
part of gamma-secretase complex	IDA IDA: Inferred from direct assay	10801983	GOA
part of gamma-secretase complex	IGI IGI: Inferred from genetic interaction	12763021	GOA
located in growth cone	IDA IDA: Inferred from direct assay	15004326	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	9298903	GOA
located in membrane	IDA IDA: Inferred from direct assay	22375059	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	20299451	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	12377771	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	15004326	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	9298903	GOA
located in nuclear outer membrane	IDA IDA: Inferred from direct assay	9246482	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	10508860	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15274632	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	10508860	GOA
located in rough endoplasmic reticulum	IDA IDA: Inferred from direct assay	9632714	GOA
colocalizes with smooth endoplasmic reticulum	IDA IDA: Inferred from direct assay	10508860	GOA
located in smooth endoplasmic reticulum	IDA IDA: Inferred from direct assay	9632714	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PSEN1 Protein Structure

Presenilin

0
100
200
300
400
467 a.a.

Protein Preferred Names	Protein Names
presenilin-1	familial Alzheimer Disease

PSEN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PSEN1	P49768	TMBIM6	Homo sapiens	P55061	GMS	30559186
Intra	PSEN1	P49768	TMBIM6	Homo sapiens	P55061	Anti Tag CoIP	30559186
Intra	PSEN1	P49768	TMBIM6	Homo sapiens	P55061	Pull Down	30559186
Intra	PSEN1	P49768	TMBIM6	Homo sapiens	P55061	EM	30559186
Intra	PSEN1	P49768	TMBIM6	Homo sapiens	P55061	Confocal	30559186
Intra	PSEN1	P49768	TREM2	Homo sapiens	Q9NZC2	Anti Bait CoIP	29611543
Intra	PSEN1	P49768	BACE1	Homo sapiens	P56817	Pull Down	12901838
Intra	PSEN1	P49768	BACE1	Homo sapiens	P56817	Anti Tag CoIP	12901838
Intra	PSEN1	P49768	BACE1	Homo sapiens	P56817	Y2H	12901838
Intra	PSEN1	P49768	BACE1	Homo sapiens	P56817	IF	12901838
Intra	PSEN1	P49768	BACE1	Homo sapiens	P56817	Anti Bait CoIP	12901838
Intra	PSEN1	P49768	APH1A	Homo sapiens	Q96BI3	Anti Tag CoIP	30559186
Intra	PSEN1	P49768	APH1A	Homo sapiens	Q96BI3	Anti Bait CoIP	25394380
Intra	PSEN1	P49768	CDC37	Homo sapiens	Q16543	Anti Bait CoIP	21163940
Intra	PSEN1	P49768	APP	Homo sapiens	P05067-4	Protease Assay	21115843
Intra	PSEN1	P49768	APP	Homo sapiens	P05067-4	Anti Bait CoIP	11083918
Intra	PSEN1	P49768	ST13	Homo sapiens	P50502	Y2H	21163940
Intra	PSEN1	P49768	APBA1	Homo sapiens	Q02410	Anti Bait CoIP	11083918
Intra	PSEN1	P49768	APBA1	Homo sapiens	Q02410	Pull Down	11083918
Intra	PSEN1	P49768	APBA1	Homo sapiens	Q02410	Anti Tag CoIP	11083918
Intra	PSEN1	P49768	APBA1	Homo sapiens	Q02410	Pull Down	16007100
Intra	PSEN1	P49768	ECSIT	Homo sapiens	Q9BQ95	Anti Bait CoIP	21163940
Intra	PSEN1	P49768	APP	Homo sapiens	P05067	Y2H Array	21163940
Intra	PSEN1	P49768	APP	Homo sapiens	P05067	Anti Bait CoIP	21163940
Intra	PSEN1	P49768	APP	Homo sapiens	P05067	Anti Bait CoIP	9223340
Cross	PSEN1	P49768	Apba2	Mus musculus	P98084	Anti Bait CoIP	11083918
Cross	PSEN1	P49768	Apba2	Mus musculus	P98084	Anti Tag CoIP	11083918
Intra	PSEN1	P49768	TMED10	Homo sapiens	P49755	Anti Tag CoIP	25959826
Intra	PSEN1	P49768	NCSTN	Homo sapiens	Q92542	Anti Bait CoIP	29611543
Intra	PSEN1	P49768	NCSTN	Homo sapiens	Q92542	Anti Bait CoIP	18201567
Intra	PSEN1	P49768	NCSTN	Homo sapiens	Q92542	Anti Tag CoIP	30559186
Intra	PSEN1	P49768	PSENEN	Homo sapiens	Q9NZ42	Anti Tag CoIP	30559186
Intra	PSEN1	P49768	PSENEN	Homo sapiens	Q9NZ42	Anti Bait CoIP	15322109

Cross: Cross-species interaction Intra: Intraspecies interaction

PSEN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81977	Presenilin 1 Antibody (YA1722)	WB, ICC/IF, IP	Human, Mouse, Rat
HY-P81977A	Presenilin 1 Antibody (YA1722)(PBS only)	WB, ICC/IF, IP	Human, Mouse, Rat
HY-P82123	Phospho-Presenilin 1 (Ser310) Antibody (YA1868)	WB	Human
HY-P82123A	Phospho-Presenilin 1 (Ser310) Antibody (YA1868)(PBS only)	WB	Human

Related Diseases

Diseases	Alias
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease
Alzheimer Disease 3	AD3 Alzheimer Disease, Type 3 Alzheimer Disease, Type 3, With Spastic Paraparesis And Apraxia Alzheimer Disease, Type 3, With Spastic Paraparesis And Unusual Plaques Alzheimer'S Disease 3 Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Apraxia Alzheimer Disease 3, Early-Onset Alzheimer Disease, Familial, 3 Alzheimer Disease, Protection Against, Due To Apoe3-Christchurch Alzheimer Disease 3, Early Onset Alzheimer Disease Familial 3 Early-Onset Familial Alzheimer Disease 3 Familial Alzheimer Disease 3 Familial Alzheimer Disease 3 With Spastic Paraparesis And Apraxia Familial Alzheimer Disease 3 With Spastic Paraparesis And Unusual Plaques Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Unusual Plaques Alzheimer Disease, Familial, Type 3
Cardiomyopathy, Dilated, 1u	CMD1U Dilated Cardiomyopathy 1u Cardiomyopathy, Dilated 1u
Acne Inversa, Familial, 3	ACNINV3 Acne Inversa Familial Hidradenitis Suppurativa Familial Acne Inversa, Familial, Type 3
Early-Onset, Autosomal Dominant Alzheimer Disease	Familial Alzheimer Disease Early-Onset Autosomal Dominant Alzheimer Disease Eofad Early-Onset Familial Autosomal Dominant Alzheimer Disease Alzheimer'S Disease, Familial
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Progressive Non-Fluent Aphasia	Non-Fluent Variant Ppa Progressive Nonfluent Aphasia Non-Fluent Primary Progressive Aphasia Agramatic Variant Of Ppa Agramatic Variant Of Primary Progressive Aphasia Primary Progressive Non Fluent Aphasia Primary Progressive Nonfluent Aphasia
Alzheimer Disease 4	AD4 Alzheimer Disease-4 Alzheimer'S Disease 4 Alzheimer Disease, Familial, 4 Alzheimer Disease, Familial4 Alzheimer'S Disease 4, Early Onset Alzheimer Disease, Type 4
Spastic Paraparesis
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Aphasia
Acne	Acne Vulgaris Acne Varioliformis Frontalis Acne
Cerebral Amyloid Angiopathy, Cst3-Related	Cerebral Amyloid Angiopathy Hereditary Cerebral Hemorrhage With Amyloidosis Hchwa Hereditary Cystatin C Amyloid Angiopathy Cerebral Amyloid Angiopathy, Familial Amyloidosis, Cerebroarterial, Icelandic Type Amyloidosis Vi Cerebral Hemorrhage, Hereditary, With Amyloidosis Cst3-Related Cerebral Amyloid Angiopathy Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant Caa, Familial Cerebral Amyloid Angiopathy, Genetic Acys Amyloidosis Cst3-Related Amyloidosis Cystatin Amyloidosis Hchwa, Icelandic Type Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type Amyloidosis 6 AMYL6 Acys Caa Cerebral Amyloid Angiopathy Cst3-Related Cerebroarterial Amyloidosis Icelandic Type Cystatin C Amyloidosis Hccaa Hchwai Hchwa-I Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type Cerebral Amyloid Angiopathy Familial Angiopathy, Amyloid, Cerebral, Cst3-Related Hereditary Cerebral Amyloid Angiopathy, Icelandic Type Familial Cerebral Amyloid Angiopathy Cerebral Amyloid Angiopathy, Hereditary
Apraxia	Apraxias Dyspraxia
Amyloidosis	Amyloid Disease Amyloid Amyloid Degeneration Amyloidosis Nos Amyloid Deposition Amyloid Infiltration Idiopathic Amyloidosis Hyaloid Degeneration Lardaceous Degeneration
Vascular Dementia	Dementia, Vascular Multi Infarct Dementia Multifocal Dementia Dementia Vascular Vascular Dementia, Susceptibility To Dementia, Multi-Infarct Multi-Infarct Dementia
Visual Agnosia	Primary Visual Agnosia
Myositis	Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myositis Iim Imm Idiopathic Inflammatory Myopathies Myopathy, Familial Idiopathic Inflammatory Inflammatory Disorder Of Muscle Idiopathic Inflammatory Myopathy, Familial Inflammatory Myopathy, Idiopathic Myopathies Idiopathic Inflammatory Familial Idiopathic Inflammatory Myopathy
Hidradenitis Suppurativa	Acne Inversa Suppurative Hidradenitis Acne Inversa, Familial Apocrinitis Hidradenitides, Suppurative Hidradenitis, Suppurative Suppurative Hidradenitides Inverse Acne
Inclusion Body Myositis	Ibm Sporadic Inclusion Body Myositis Inflammatory Myopathy Myositis, Inclusion Body Inflammatory Myopathies Sibm Myositis Inclusion Body Nonaka Myopathy Inclusion Body Myopathy, Autosomal Recessive Inclusion Body Myopathy, Autosomal Dominant Myositis Inclusion Body Myopathy, Sporadic
Hidradenitis	Hydradenitis
Cerebral Amyloid Angiopathy, App-Related	Hchwad Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants App-Related Cerebral Amyloid Angiopathy Abetaa21g Amyloidosis Abeta Amyloidosis, Italian Type Abeta Amyloidosis, Arctic Type Abeta Amyloidosis, Iowa Type Abeta Amyloidosis, Dutch Type Hchwa-D Abeta Amyloidosis, Flemish Type Abetaa21g-Related Amyloidosis Hchwa, Flemish Type Hereditary Cerebral Hemorrhage With Amyloidosis, Flemish Type Abetae22k Amyloidosis Hchwa, Italian Type Hereditary Cerebral Hemorrhage With Amyloidosis, Italian Type Abetae22g Amyloidosis Hchwa, Arctic Type Hereditary Cerebral Hemorrhage With Amyloidosis, Arctic Type Abetad23n Amyloidosis Hchwa, Iowa Type Hereditary Cerebral Hemorrhage With Amyloidosis, Iowa Type Abetal34v Amyloidosis Abeta Amyloidosis, Piedmont Type Abetal34v-Related Amyloidosis Hchwa, Piedmont Type Hereditary Cerebral Hemorrhage With Amyloidosis, Piedmont Type Abetae22q Amyloidosis Hchwa, Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis, Dutch Type CAA-APP Amyloidosis Cerebroarterial App-Related Amyloidosis Hereditary With Cerebral Hemorrhage Dutch Variant Cerebral Amyloid Angiopathy App-Related Arctic Variant Cerebral Amyloid Angiopathy App-Related Dutch Variant Cerebral Amyloid Angiopathy App-Related Flemish Variant Cerebral Amyloid Angiopathy App-Related Iowa Variant Cerebral Amyloid Angiopathy App-Related Italian Variant Familial Occipital Calcifications With Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia Fochs-Ladd Hereditary Cerebral Amyloid Angiopathy Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis Italian Type Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Mild Cognitive Impairment
Speech And Communication Disorders	Language Disorder Communication Disorder Language Disorders Communication Disorders Speech Language Disorder Speech-Language Disorder Communication Impairment Speech And Language Disorder
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Subjective Cognitive Decline
Simultanagnosia
Gerstmann Syndrome	Aphasia-Angular Gyrus Syndrome Developmental Gerstmann Syndrome Gs Gerstmann Badal Syndrome Gerstmann Tetrad Gerstmann'S Syndrome Developmental Gerstmann'S Syndrome
Anosognosia
Ideomotor Apraxia	Apraxia, Ideomotor Classic Apraxia Ideomotor Dyspraxia Limb-Kinetic Apraxia Transcortical Apraxia
Gerstmann-Straussler Disease	Gerstmann-Straussler-Scheinker Disease Gerstmann-Straussler-Scheinker Syndrome Prion Dementia Cerebral Amyloid Angiopathy, Prnp-Related GSD Gss Cerebellar Ataxia, Progressive Dementia, And Amyloid Deposits In Cns Amyloidosis, Cerebral, With Spongiform Encephalopathy Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type Amyloidosis Cerebral With Spongiform Encephalopathy Cerebellar Ataxia, Progressive Dementia, And Amyloid Deposits In The Central Nervous System Encephalopathy Subacute Spongiform Gerstmann-Straussler Type Gssd Gerstmann Straussler Scheinker Syndrome Cerebral Amyloidosis With Spongiform Encephalopathy Subacute Spongiform Encephalopathy Gerstmann-Straussler Type Gluthathione Synthetase Deficiency Gerstmann Straussler Syndrome
Chromosomal Duplication Syndrome
Nominal Aphasia	Anomia Anomic Aphasia
Cerebral Amyloid Angiopathy, Itm2b-Related, 1	Dementia, Familial British Fbd Presenile Dementia With Spastic Ataxia Familial British Dementia Abri Amyloidosis Cerebral Amyloid Angiopathy, British Type Itm2b-Related Cerebral Amyloid Angiopathy 1 Familial Dementia, British Type Cerebral Amyloid Angiopathy, Itm2b-Related 1 CAA-ITM2B1 Cerebral Amyloid Angiopathy British Type Dementia, Familial, British
Alexia	Dyslexia Dyslexia, Acquired Acquired Dyslexia Aphemesthaesia
Prion Disease	Spongiform Encephalopathy Transmissible Spongiform Encephalopathies Prion Diseases Prion Disease Pathway Transmissible Spongiform Encephalopathy Prion Induced Disorder Prion Protein Disease Inherited Human Transmissible Spongiform Encephalopathies Prion Protein Diseases Prion-Associated Disorders Prion-Induced Disorders Transmissible Dementias Tses Human Prion Disease Tse Encephalopathy, Transmissible Spongiform Prion Disease, Susceptibility To Spongiform Encephalopathies Human Transmissible Spongiform Encephalopathies, Inherited
Creutzfeldt-Jakob Disease	Variant Creutzfeldt-Jakob Disease CJD Bovine Spongiform Encephalopathy Vcjd Inherited Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease, Familial Creutzfeldt Jakob Disease Creutzfeldt-Jacob Disease Creutzfeldt Jacob Disease Sporadic Creutzfeldt-Jakob Disease Encephalopathy, Bovine Spongiform Creutzfeldt-Jakob Disease, Variant, Resistance To Creutzfeldt-Jakob Disease, Variant Creutzfeldt Jacob Syndrome Jakob-Creutzfeldt Disease Subacute Spongiform Encephalopathy Transmissible Virus Dementia New Variant Of Cjd Nv-Cjd Variant Cjd Variant Creutzfeldt-Jacob Disease Sporadic Cjd Inherited Cjd Acquired Creutzfeldt-Jakob Disease Variant Mcj Encephalopathy Bovine Spongiform Familial Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Syndrome New Variant Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease, Sporadic Acquired Cjd Scjd - [Sporadic Creutzfeldt-Jakob Disease] Idiopathic Creutzfeldt-Jakob Disease Creutzfeld-Jakob Disease Nos Vcjd - [Variant Creutzfeldt-Jakob Disease]
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Nasu-Hakola Disease Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy Plosl Nhd Presenile Dementia With Bone Cysts Plo-Sl PLOSL1 Dementia, Prefrontal, With Bone Cysts Dementia, Progressive, With Lipomembranous Polycystic Osteodysplasia Brain-Bone-Fat Disease Progressive Dementia With Lipomembranous Polycystic Osteodysplasia Brain-Bone-Fat Disease
Fatal Familial Insomnia	Insomnia, Fatal Familial FFI Familial Fatal Insomnia Insomnia Familial Fatal Insomnia Fatal Familial Insomnia, Fatal, Familial Ffi - [Fatal Familial Insomnia]
Dyscalculia	Disorder Of Arithmetical Skills Mathematics Disorder Developmental Arithmetic Disorder
Dementia, Lewy Body	Lewy Body Dementia Lewy Body Disease Diffuse Lewy Body Disease Dementia With Lewy Bodies DLB Autosomal Dominant Diffuse Lewy Body Disease Cortical Lewy Body Disease Dementia, Lewy Body, Susceptibility To Lewy Body Dementia, Susceptibility To Senile Dementia Of The Lewy Body Type Dementia Of The Lewy Body Type Lbd Diffuse Lewy Body Disease With Gaze Palsy Dysphasic Dementia Hereditary Lewy Body Type Senile Dementia Lewy Body Variant Of Alzheimer Disease Lewy Bodies Lewy Body Dlbd - [Diffuse Lewy Body Disease] Clbd - [Cortical Lewy Body Disease]
Toxic Encephalopathy	Neurotoxicity Neurotoxicity Syndromes Neurotoxicity Syndrome Encephalopathy, Toxic
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Amnestic Disorder	Amnesia Amnestic Syndrome Korsakoff'S Psychosis Or Syndrome Amnesic Syndrome Amnestic Disorder In Conditions Classified Elsewhere Korsakoff Psychosis Or Syndrome, Nonalcoholic Nonalcoholic Organic Amnesic Syndrome Organic Amnesic Syndrome
Kuru	Kuru, Susceptibility To Kuru Encephalopathy Kuru Encephalitis Kuru Disease
Narcolepsy	Paroxysmal Sleep Gelineau Syndrome Narcoleptic Syndrome Narcolepsy-Cataplexy Syndrome Cataplexy And Narcolepsy Narcolepsy, Without Cataplexy Gelineau'S Syndrome Narcolepsy With Or Without Cataplexy Narcolepsy Nos
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Supranuclear Palsy, Progressive, 1	Progressive Supranuclear Palsy Steele-Richardson-Olszewski Syndrome Supranuclear Palsy, Progressive Progressive Supranuclear Ophthalmoplegia Psp PSNP1 Familial Progressive Supranuclear Palsy Richardson'S Syndrome Psp Syndrome Progressive Supranuclear Palsy 1 Supranuclear Palsy Progressive Ophthalmoplegia, Supranuclear, Progressive Steele-Richardson-Olszewksi Syndrome
Disease Of Mental Health	Mental Health Mental Disorders
Normal Pressure Hydrocephalus	Low Pressure Hydrocephalus Hydrocephalus Normal Pressure Hydrocephalus, Normal Pressure Normal Pressure Hydrocephalus Nos Nph - [Normal Pressure Hydrocephalus] Normal Pressure Hydrocephaly
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Communicating Hydrocephalus	Acquired Communicating Hydrocephalus
Alzheimer Disease 11	Ad11 Alzheimer'S Disease 11 Alzheimer Disease, Familial, 11 Alzheimer Disease-11 Alzheimer'S Disease 11, Late Onset
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Dowling-Degos Disease	Reticular Pigment Anomaly Of Flexures Dark Dot Disease Reticulate Acropigmentation Of Kitamura Dowling-Degos Kitamura Disease Kitamura Reticulate Acropigmentation Ddd Dowling-Degos-Kitamura Disease Reticular Pigmented Anomaly Of Flexures
Movement Disease	Movement Disorders Movement Disorder
Alzheimer Disease 9	AD9 Alzheimer'S Disease 9 Alzheimer Disease 9, Susceptibility To Alzheimer Disease 9, Late-Onset Alzheimer'S Disease 9, Late Onset {Alzheimer Disease 9, Susceptibility To}
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Alzheimer'S Disease 1	Alzheimer Disease Type 1 Alzheimer'S Disease 1, Early Onset
Stroke, Ischemic	Cerebral Infarction Stroke Ischemic Stroke Cerebrovascular Accident Cerebral Infarction, Susceptibility To Stroke, Ischemic, Susceptibility To Cerebral Infarct Ischemic Stroke, Susceptibility To Stroke, Susceptibility To Cva - Cerebral Infarction ISCHSTR Ischemic Cerebrovascular Accident
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	FTDALS1 Frontotemporal Dementia And/Or Motor Neuron Disease Ftdmnd Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia Alsftd Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1 Frontotemporal Dementia With Motor Neuron Disease Ftdals Ftd-Als Ftd-Mnd Frontotemporal Dementia With Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1 Frontotemporal Lobar Degeneration Grn-Related Frontotemporal Dementia
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14174	MRK-560	Inhibitor	99.92%	Unkown
HY-W015515	L-Citronellol	Inhibitor	99.92%	Unkown
HY-156012	PSEN1-IN-2	Inhibitor	/	Unkown
HY-P1378A	β-Amyloid (1-43)(human) TFA		95.42%	Unkown
HY-178128	PSEN1-IN-3		/	Unkown
HY-180997	Aβ aggregation-IN-5	Inhibitor	/	Unkown
HY-P1378	β-Amyloid (1-43)(human)		/	Unkown
HY-RS11276	PSEN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-156011	PSEN1-IN-1	Inhibitor	/	Unkown
HY-RS18076	Psen1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24551	Psen1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PSEN1	VGNC	VGNC:45085
Macaca mulatta	PSEN1	VGNC	VGNC:76435
Mus musculus	PSEN1	MGD	MGI:1202717
Rattus norvegicus	PSEN1	RGD	RGD:3425
Felis catus	PSEN1	VGNC	VGNC:69100
Bos taurus	PSEN1	VGNC	VGNC:33434
Others	PSEN1	NCBI