NPC1 - NPC intracellular cholesterol transporter 1 Gene

Also Known as NPC; POGZ; SLC65A1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4864

About NPC1

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:23,506,184-23,586,506 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues, 10 paralogues and is associated with 7 phenotypes. Ubiquitous expression in adrenal (RPKM 13.9), brain (RPKM 10.0) and 24 other tissues.

Summary

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular Cholesterol trafficking via binding of Cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free Cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of Cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

NPC1 Products (1)

mRNA	Protein	Name
NM_000271.5	NP_000262.2	NPC intracellular cholesterol transporter 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cholesterol binding	IDA IDA: Inferred from direct assay	18772377	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16757520	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within autophagy	IGI IGI: Inferred from genetic interaction	19074461	GOA
involved in cholesterol efflux	IDA IDA: Inferred from direct assay	16141411	GOA
involved in cholesterol homeostasis	IDA IDA: Inferred from direct assay	12719428	GOA
involved in cholesterol homeostasis	IMP IMP: Inferred from mutant phenotype	9211849	GOA
involved in cholesterol transport	IDA IDA: Inferred from direct assay	18772377	GOA
involved in establishment of protein localization to membrane	IDA IDA: Inferred from direct assay	23360953	GOA
involved in intracellular cholesterol transport	IMP IMP: Inferred from mutant phenotype	9211849	GOA
involved in intracellular lipid transport	IMP IMP: Inferred from mutant phenotype	27378690	GOA
involved in membrane raft organization	IMP IMP: Inferred from mutant phenotype	23360953	GOA
involved in negative regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	28336668	GOA
involved in protein glycosylation	IDA IDA: Inferred from direct assay	10821832	GOA
involved in symbiont entry into host cell	IMP IMP: Inferred from mutant phenotype	21866101	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12554680	GOA
located in late endosome membrane	IMP IMP: Inferred from mutant phenotype	27378690	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	9927649	GOA
located in lysosomal membrane	IMP IMP: Inferred from mutant phenotype	27378690	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	12554680	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	12554680	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10821832	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

NPC1 Protein Structure

Sterol-sensing

Patched

0
200
400
600
800
1000
1200
1278 a.a.

Protein Preferred Names	Protein Names
NPC intracellular cholesterol transporter 1	Niemann-Pick C1 protein

NPC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	NPC1	O15118	GP	Zaire ebolavirus	X5HMX4	X-Ray Diffraction	26771495
Cross	NPC1	O15118	GP	Zaire ebolavirus	X5HMX4	SPR	26771495
Intra	NPC1	O15118	NPC2	Homo sapiens	P61916	Pull Down	20674861
Intra	NPC1	O15118	NPC2	Homo sapiens	P61916	ITC	27238017
Intra	NPC1	O15118	NPC2	Homo sapiens	P61916	Anti Tag CoIP	20674861
Intra	NPC1	O15118	CAV1	Homo sapiens	Q03135	Confocal	25285302
Intra	NPC1	O15118	CAV1	Homo sapiens	Q03135	Anti Bait CoIP	25285302
Cross	NPC1	O15118	GP	Zaire ebolavirus	P87666	SPR	27238017
Cross	NPC1	O15118	GP	Zaire ebolavirus	P87666	3D-EM	27238017

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NPC1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74695	Niemann Pick C1/NPC1 Protein, Human (HEK293, His)	O15118-1 (R372-F622)	≥ 95%, as determined by reducing SDS-PAGE.

NPC1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82545	Niemann Pick C1 Antibody (YA2290)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C NPC1 Niemann-Pick Disease, Type D Niemann-Pick Disease Type C1 Niemann-Pick Disease With Cholesterol Esterification Block Niemann-Pick Disease, Subacute Juvenile Form Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia Npc Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease Without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann-Pick Disease Type D Niemann-Pick C1 Disease Niemann-Pick Disease C1 Niemann-Pick Disease Chronic Neuronopathic Form Niemann-Pick Disease Nova Scotian Type Niemann-Pick Disease Subacute Juvenile Form Niemann-Pick Disease Type Ii Niemann-Picks Disease Type C
Niemann-Pick Disease Type C, Severe Perinatal Form
Niemann-Pick Disease Type C, Late Infantile Neurologic Onset
Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset
Niemann-Pick Disease Type C, Adult Neurologic Onset
Niemann-Pick Disease Type C, Juvenile Neurologic Onset	Niemann-Pick Disease Type C, Classic Form
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Headache	Headache Disorder
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Sphingolipidosis	Sphingolipidoses
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Nasopharyngeal Carcinoma	Malignant Neoplasm Of Nasopharynx Npc Nasopharyngeal Cancer Nasopharyngeal Carcinoma 1 Nasopharynx Carcinoma Nasopharyngeal Neoplasms Npca Carcinoma Of Nasopharynx Malignant Nasopharyngeal Tumor Nasopharynx Cancer Squamous Cell Carcinoma Of The Nasopharynx Nasopharyngeal Neoplasm Cancer Of Nasopharynx
Tangier Disease	Analphalipoproteinemia High Density Lipoprotein Deficiency, Tangier Type TGD High Density Lipoprotein Deficiency, Type 1 Hdldt1 Familial High Density Lipoprotein Deficiency A-Alphalipoprotein Neuropathy Alpha High Density Lipoprotein Deficiency Disease Cholesterol Thesaurismosis Familial High Density Lipoprotein Deficiency Disease Hdl Lipoprotein Deficiency Disease Tangier Disease Neuropathy Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency 1 Primary Hypoalphalipoproteinemia 1 Analphalipo-Proteinemia Familial Hypoalphalipo-Proteinemia Familial Hypoalphalipoproteinemia Lipoprotein Deficiency Disease, Hdl, Familial Tangier Hereditary Neuropathy Atp-Binding Cassette Transporter A1 Deficiency Hdld1 High Density Lipoprotein Deficiency 1 Tangier Disease, Variant Hypoalphalipoproteinemia, Familial Familial Hdl Deficiency
Sandhoff Disease	Total Hexosaminidase Deficiency Hexosaminidases A And B Deficiency Sandhoff Disease, Infantile, Juvenile, And Adult Forms Beta-Hexosaminidase-Beta-Subunit Deficiency Gm2 Gangliosidosis, Type 2 Hexosaminidase A And B Deficiency Disease Sandhoff-Jatzkewitz-Pilz Disease Gm2 Gangliosidosis, Type Ii Sandhoff Disease, Infantile Form Sandhoff Disease, Adult Form Sandhoff Disease, Juvenile Form Gm2-Gangliosidosis, Type Ii Sandhoff Jatzkewitz Disease Type Ii Gm2 Gangliosidosis Gm2 Gangliosidosis, 0 Variant Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Infantile Form Infantile Gm2 Gangliosidosis 0 Variant Adult Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Adult Form Hexosaminidases A And B Deficiency, Juvenile Form Juvenile Gm2 Gangliosidosis 0 Variant Gm2-Gangliosidosis 2 GM2G2 Hexosaminidase A And B Deficiency Sd
C Syndrome	Opitz Trigonocephaly Syndrome Trigonocephaly Trigonocephaly Syndrome Trigonocephaly C Syndrome Opitz C Trigonocephaly Opitz Trigonocephaly C Syndrome Otcs CSYN
Multiple Sulfatase Deficiency	Mucosulfatidosis MSD Sulfatidosis, Juvenile, Austin Type Multiple Sulfatase Deficiency Disease Juvenile Sulfatidosis, Austin Type Juvenile Sulfatidosis Sulfatidosis Juvenile, Austin Type Austin Syndrome Sulfatidosis Juvenile Austin Type Sulfatase Deficiency, Multiple
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
Niemann-Pick Disease, Type C2	NPC2 Niemann-Pick Disease Type C2 Niemann-Pick C2 Disease Niemann-Pick Disease C2
Cerebral Lipidosis
Lysosomal And Lipase Deficiency
Niemann-Pick Disease, Type B	Niemann-Pick Disease Type B Acid Sphingomyelinase Deficiency, Visceral Type Asmd, Visceral Type Niemann Pick Disease Type B Chronic Visceral Acid Sphingomyelinase Deficiency Chronic Visceral Asmd Npd-B Niemann-Pick Disease B NPDB Niemann-Pick Disease Adult Non-Neuronopathic Form Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression Niemann-Pick Disease Type E Niemann-Pick Disease Type F Niemann-Pick Disease Type I Niemann-Pick Disease Visceral Form Npb Sphingomyelinase Deficiency Sphingomyelin Lipidosis Niemann-Picks Disease Type B Niemann-Pick Disease, Type E Niemann-Pick Diseases Niemann-Pick Disease, Type A
Lysosomal Acid Lipase Deficiency	Wolman Disease Cholesteryl Ester Storage Disease Lal Deficiency Lipa Deficiency Cholesterol Ester Storage Disease CESD Cholesterol Ester Hydrolase Deficiency Acid Lipase Deficiency Acid Esterase Deficiency Familial Xanthomatosis Wolman Xanthomatosis Wolman'S Disease Wolman'S Or Triglyceride Storage Type Iii Disease Xanthomatosis, Familial Liposomal Acid Lipase Deficiency, Wolman Type Familial Visceral Xanthomatosis Primary Familial Xanthomatosis Primary Familial Xanthomatosis With Adrenal Calcification Acid Lipase Disease WOD Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
Wilson Disease	Hepatolenticular Degeneration WD Wilson'S Disease WND Westphal-Strumpell Syndrome Copper Storage Disease Cerebral Pseudosclerosis Westphal Pseudosclerosis Hepatolenticular Degeneration Syndrome Copper Retention Hepatocerebral Degeneration Kinnier-Wilson Disease Neurohepatic Degeneration Progressive Hepatolenticular Degeneration Lenticular Degenerative Disease Wilson'S Syndrome Lenticular Syndrome
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Marburg Hemorrhagic Fever	Marburg Virus Disease Marburg Disease Green Monkey Disease Mhf Vervet Monkey Disease Mard - [Marburg Disease] Mvd - [Marburg Virus Disease] Marburg Haemorrhagic Fever Mhf - [Marburg Haemorrhagic Fever]
Narcolepsy 1	NRCLP1 Narcoleptic Syndrome 1 Gelineau Disease Narcolepsy-Cataplexy Narcolepsy-Cataplexy Syndrome Narcolepsy, Type 1 Narcolepsy Type 1 Cataplexy Gélineau'S Syndrome Narcolepsy With Cataplexy And/Or Hypocretin Deficiency
Ebola Hemorrhagic Fever	Ebola Virus Disease Viral Hemorrhagic Fever Hemorrhagic Fever, Ebola Ebola Ehf Ebola Fever Hemorrhagic Fevers, Viral Ebola Haemorrhagic Fever Ebod - [Ebola Disease] Evd - [Ebola Virus Disease] Ebola Virus Haemorrhagic Fever Vhf - [Viral Haemorrhagic Fever] Nos Viral Haemorrhagic Fever, Not Otherwise Specified
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Mucolipidosis Iv	Mucolipidosis Type Iv ML4 Sialolipidosis Mucolipidosis Type 4 Ganglioside Sialidase Deficiency Mliv Ml Iv Berman Syndrome Ganglioside Neuraminidase Deficiency Ml 4 Mucolipidosis 4 Type Iv Mucolipidosis Gangliosidoses
Niemann-Pick Disease, Type A	Niemann-Pick Disease Type A Sphingomyelin Lipidosis Sphingomyelinase Deficiency Niemann-Pick Disease, Intermediate, Protracted Neurovisceral Acid Sphingomyelinase Deficiency, Neurovisceral Type Asmd, Neurovisceral Type Infantile Neurovisceral Acid Sphingomyelinase Deficiency Infantile Neurovisceral Asmd Npd-A Niemann-Pick Disease A NPDA Classical Niemann-Pick Disease Niemann-Pick Disease Acute Neuronopathic Form Niemann-Pick Disease Acute Neurovisceral Form Niemann-Pick Disease Classical Infantile Form Niemann-Pick Disease Intermediate Protracted Neurovisceral Niemann-Pick Disease Neuronopathic Type Niemann-Pick Disease Type I Npa Niemann-Pick Diseases
Gm1 Gangliosidosis	Beta-Galactosidase Deficiency Gangliosidosis Gm1 Deficiency Of Beta-Galactosidase Beta Galactosidase 1 Deficiency Beta-Galactosidosis Glb 1 Deficiency Beta-Galactosidase-1 Deficiency Beta-Galactosidase-1 Deficiency Glb1 Deficiency Landing Disease Gangliosidosis, Gm1
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Gangliosidosis	Gangliosidoses
Farber Lipogranulomatosis	Farber Disease Acid Ceramidase Deficiency Ceramidase Deficiency Ac Deficiency N-Laurylsphingosine Deacylase Deficiency Farber'S Disease FRBRL Farber'S Lipogranulomatosis Acylsphingosine Deacylase Deficiency Farber-Uzman Syndrome Acy
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
Mucolipidosis
Krabbe Disease	Globoid Cell Leukodystrophy Galactosylceramide Beta-Galactosidase Deficiency Galc Deficiency Galactocerebrosidase Deficiency GLD Globoid Cell Leukoencephalopathy Diffuse Globoid Body Sclerosis Gcl Leukodystrophy, Globoid Cell Krabbe'S Leukodystrophy Krabbe Leukodystrophy KRB Beta Galactocerebrosidase Deficiency Krabbe'S Disease Galactosylceramidase Deficiency Disease Galactosylceramide Lipidosis Galactosylcerebrosidase Deficiency Galactosylsphingosine Lipidosis Psychosine Lipidosis Galactosylceramidase Deficiency Infantile Globoid Cell Leukodystrophy Krabbe Brain Sclerosis
Gaucher Disease, Perinatal Lethal	Gaucher Disease Perinatal Lethal Gaucher Disease, Collodion Type Gaucher'S Disease Perinatal Lethal Fetal Gaucher Disease Perinatal Lethal Gaucher Disease Gaucher Disease Collodion Type Gaucher Disease, Perinatal-Lethal Form GDPL
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B
Mucopolysaccharidosis, Type Iiib	Mucopolysaccharidosis Type Iiib MPS3B Naglu Deficiency Mps Iiib Sanfilippo Syndrome B N-Acetyl-Alpha-D-Glucosaminidase Deficiency Mpsiiib Mucopoly-Saccharidosis Type 3b Mucopolysaccharidosis Type 3b N-Acetyl-Alpha-Glucosaminidase Deficiency Sanfilippo Syndrome Type B Mps Iii B Mps 3b Mps Iii-B Mucopolysaccharidosis 3b
Glycoproteinosis	Sialidosis Mucolipidosis Type I Mucolipidoses Cherry Red Spot Myoclonus Syndrome Mucolipidosis I Myoclonus Cherry Red Spot Syndrome Type I Mucolipidosis Lipomucopolysaccharidosis Disorders Of Glycoprotein Metabolism Glycoprotein Storage Disorder
Gaucher Disease, Type I	Glucocerebrosidase Deficiency Acid Beta-Glucosidase Deficiency Gba Deficiency GD1 Gd I Gaucher Disease, Noncerebral Juvenile Gaucher Disease Type 1 Gaucher Disease Type I Gaucher'S Disease Type I Gaucher Disease Gd 1 Non-Cerebral Juvenile Gaucher Disease GD Gaucher Disease 1 Adult Non-Neuronopathic Gaucher Disease Noncerebral Juvenile Gaucher Disease Type 1 Gaucher Disease Gaucher Disease, Type 1
Neonatal Jaundice	Neonatal Hyperbilirubinemia Neonatal Icterus Jaundice Neonatal Jaundice, Neonatal Hyperbilirubinemia, Neonatal
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Spinocerebellar Ataxia, Autosomal Recessive 20	Autosomal Recessive Spinocerebellar Ataxia 20 SCAR20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome Autosomal Recessive Spinocerebellar Ataxia Type 20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 20 Ataxia, Spinocerebellar, Autosomal Recessive, Type 20
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2
Obstructive Jaundice	Jaundice, Obstructive Cholestatic Jaundice Cholestatic Jaundice Syndrome Obstructive Hyperbilirubinemia Jaundice Obstructive Jaundice Cholestatic
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Neuroaxonal Dystrophy	Neuroaxonal Dystrophies
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
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
Ceroid Lipofuscinosis, Neuronal, 3	Batten Disease Juvenile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 3 CLN3 Jncl Spielmeyer-Vogt Disease Vogt-Spielmeyer Disease Spielmeyer-Sjogren Disease Cln3 Disease Neuronal Ceroid Lipofuscinosis, Juvenile Cln3 Disease, Juvenile Spielmeyer Sjogren Disease Vogt Spielmeyer Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Cln3-Related Neuronal Ceroid-Lipofuscinosis Juvenile Batten Disease Juvenile Cerebroretinal Degeneration Classic Juvenile Ncl Classic Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 3
Aspiration Pneumonia	Pneumonia, Aspiration Pneumonia Aspiration Aspiration Pneumonitis
Lassa Fever	Lf Lassa Hemorrhagic Fever Lf - [Lassa Fever]
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
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
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Mucopolysaccharidosis, Type Ii	Hunter Syndrome Iduronate 2-Sulfatase Deficiency Mucopolysaccharidosis Ii Mps Ii Mucopolysaccharidosis Type Ii MPS2 Sulfoiduronate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Ii Ids Deficiency Sids Deficiency I2s Deficiency Mucopolysaccharidosis Type 2 Mucopolysaccharidosis Type 2, Severe Form Deficiency Of Iduronate-2-Sulphatase Hunter'S Syndrome Mps Ii - Hunter Syndrome Iduronate-2-Sulfatase Deficiency Attenuated Mps Mps 2 Severe Mps Ii Mpsii Mucopolysaccharidosis Type 2, Attenuated Form Hunter Syndrome Type B Iduronate 2-Sulfatase Deficiency Type B Mps2b Mpsiib Mucopolysaccharidosis Type 2b Mucopolysaccharidosis Type Ii, Attenuated Form Mucopolysaccharidosis Type Iib Hunter Syndrome Type A Iduronate 2-Sulfatase Deficiency Type A Mps2a Mpsiia Mucopolysaccharidosis Type 2a Mucopolysaccharidosis Type Ii, Severe Form Mucopolysaccharidosis Type Iia Mucopolysaccharidosis 2 Hunters Syndrome Iduronate 2-Sulphatase Deficiency Iduronate Sulfatase Deficiency Iduronate Sulphatase Deficiency Sulfo-Iduronate Sulfatase Deficiency Sulfoiduronidate Sulfatase Deficiency Sulpho-Iduronate Sulphatase Deficiency Sulphoiduronidate Sulphatase Deficiency Mps2 - [Mucopolysaccharidosis 2]
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
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
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
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

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-17376	Ezetimibe		99.95%	Yes

Clinical Phase

Inhibitory Antibodies (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99544	Tagitanlimab	Inhibitor	≥99.0%	Phase 3
HY-P99362	Ensituximab	Inhibitor	99.93%	Phase 2

Pre-clinical Phase

Bioactive Molecules (23)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110028	Leelamine hydrochloride		98.10%	Unkown
HY-17376S	Ezetimibe-d4		98.84%	Unkown
HY-RS09474	NPC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W395779	EBOV-IN-1		98.66%	Unkown
HY-136059	Desfluoro-ezetimibe	Activator	99.54%	Unkown
HY-17376R	Ezetimibe (Standard)		99.90%	Unkown
HY-17640	Nicodicosapent	Inhibitor	99.79%	Unkown
HY-113845	(+)-Intermedine		99.0%	Unkown
HY-17376S1	Ezetimibe-d4-1		99.26%	Unkown
HY-135388	ent-Ezetimibe		/	Unkown
HY-160880	EBOV-IN-5	Inhibitor	/	Unkown
HY-160882	EBOV-IN-7		/	Unkown
HY-160883	EBOV-IN-8	Inhibitor	/	Unkown
HY-17376S3	Ezetimibe-13C6		/	Unkown
HY-182938	Autophagy activator-2	Activator	/	Unkown
HY-N18304	Brutieridin	Inhibitor	/	Unkown
HY-RS09475	NPC1L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-121315	BRD4097	Inhibitor	/	Unkown
HY-157161	11β-HSD2-IN-1	Inhibitor	/	Unkown
HY-RS16778	Npc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17515	Npc1l1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23218	Npc1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23972	Npc1l1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NPC1	MGD	MGI:1097712
Felis catus	NPC1	VGNC	VGNC:68528
Bos taurus	NPC1	VGNC	VGNC:32194
Rattus norvegicus	NPC1	RGD	RGD:628693
Macaca mulatta	NPC1	VGNC	VGNC:75380
Canis familiaris	NPC1	VGNC	VGNC:43913
Others	NPC1	NCBI