SMPD1 - sphingomyelin phosphodiesterase 1 Gene

Also Known as ASM; NPD; ASMASE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6609

About SMPD1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:6,390,474-6,394,996 (from NCBI)

This gene has 10 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in kidney (RPKM 23.5), thyroid (RPKM 14.4) and 25 other tissues.

Summary

The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has Phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

SMPD1 Products (5)

mRNA	Protein	Name
NM_000543.5	NP_000534.3	sphingomyelin phosphodiesterase isoform 1 precursor
NM_001007593.3	NP_001007594.2	sphingomyelin phosphodiesterase isoform 2 precursor
NM_001318087.2	NP_001305016.1	sphingomyelin phosphodiesterase isoform 3 precursor
NM_001318088.2	NP_001305017.1	sphingomyelin phosphodiesterase isoform 4
NM_001365135.2	NP_001352064.1	sphingomyelin phosphodiesterase isoform 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acid sphingomyelin phosphodiesterase activity	IDA IDA: Inferred from direct assay	8702487	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16787399	GOA
enables sphingomyelin phosphodiesterase activity	IDA IDA: Inferred from direct assay	9660788	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	8702487	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to UV	IDA IDA: Inferred from direct assay	17303575	GOA
involved in cellular response to calcium ion	IDA IDA: Inferred from direct assay	20530211	GOA
involved in ceramide biosynthetic process	IDA IDA: Inferred from direct assay	17303575	GOA
involved in ceramide biosynthetic process	IMP IMP: Inferred from mutant phenotype	8706124	GOA
involved in negative regulation of MAP kinase activity	IMP IMP: Inferred from mutant phenotype	19279008	GOA
involved in plasma membrane repair	IDA IDA: Inferred from direct assay	20530211	GOA
involved in positive regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	8706124	GOA
involved in positive regulation of endocytosis	IDA IDA: Inferred from direct assay	20530211	GOA
involved in positive regulation of viral entry into host cell	IDA IDA: Inferred from direct assay	33163980	GOA
involved in response to interleukin-1	IDA IDA: Inferred from direct assay	20807762	GOA
involved in response to ionizing radiation	IMP IMP: Inferred from mutant phenotype	8706124	GOA
involved in response to tumor necrosis factor	IDA IDA: Inferred from direct assay	20807762	GOA
involved in response to type I interferon	IDA IDA: Inferred from direct assay	20807762	GOA
involved in response to virus	IDA IDA: Inferred from direct assay	22573858	GOA
involved in sphingomyelin catabolic process	IDA IDA: Inferred from direct assay	18815062	GOA
acts upstream of symbiont entry into host cell	IDA IDA: Inferred from direct assay	33163980	GOA
acts upstream of positive effect symbiont entry into host cell	IDA IDA: Inferred from direct assay	33163980	GOA
involved in symbiont entry into host cell	IDA IDA: Inferred from direct assay	22573858	GOA
involved in termination of signal transduction	IMP IMP: Inferred from mutant phenotype	19279008	GOA
involved in wound healing	IDA IDA: Inferred from direct assay	20530211	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endolysosome	IDA IDA: Inferred from direct assay	17303575	GOA
located in endosome	IDA IDA: Inferred from direct assay	20956541	GOA
is active in extracellular space	IDA IDA: Inferred from direct assay	33163980	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	8702487	GOA
is active in lysosome	IDA IDA: Inferred from direct assay	33163980	GOA
located in lysosome	IDA IDA: Inferred from direct assay	9660788	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20956541	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

SMPD1 Protein Structure

Metallophos

0
100
200
300
400
500
600
631 a.a.

Protein Preferred Names	Protein Names
sphingomyelin phosphodiesterase	Niemann-Pick type A/B

SMPD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SMPD1	P17405	CASP7	Homo sapiens	P55210	IF	21157428
Intra	SMPD1	P17405	CASP7	Homo sapiens	P55210	Anti Bait CoIP	21157428
Intra	SMPD1	P17405	CASP7	Homo sapiens	P55210	Anti Tag CoIP	21157428

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SMPD1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76710	SMPD1 Protein, Human (sf9, His)	P17405 (M1-P628)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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
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
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
Acid Sphingomyelinase Deficiency	Asmd Niemann-Pick Diseases Niemann-Pick Disease, Type A
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
Ceroid Lipofuscinosis, Neuronal, 6a	Neuronal Ceroid Lipofuscinosis 6 CLN6 Vlincl Cln6 Disease Ceroid Lipofuscinosis, Neuronal, 6 Late-Infantile Neuronal Ceroid Lipofuscinosis CLN6A Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant Neuronal Ceroid Lipofuscinosis 6a Neuronal Ceroid Lipofuscinosis 6 Variable Age Of Onset Cln6 Disease, Adult Kufs Type A Cln6 Disease, Late Infantile Neuronal Ceroid Lipofuscinosis, Gypsy/Indian Early Juvenile Variant Ceroid Lipofuscinosis Neuronal 6 Cln6-Related Neuronal Ceroid Lipofuscinosis Late Infantile Neuronal Ceroid Lipofuscinosis Jansky-Bielschowsky Disease Lincl Late Infantile Ncl Neuronal Ceroid Lipofuscinosis 6 With Variable Age At Onset Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant Lipofuscinosis, Ceroid, Neuronal, Type 6 Ceroid Lipofuscinosis, Neuronal, 5
Mucolipidosis Ii Alpha/Beta	I-Cell Disease Mucolipidosis Type Ii Mucolipidosis Ii Icd Inclusion Cell Disease Inclusion-Cell Disease I Cell Disease Mucolipidosis 2 MLII Ml Ii Ml Ii Alpha/Beta Gnpta Leroy Disease Ml 2 Ml Disorder Type 2 N-Acetylglucosamine 1phosphotransferase Deficiency Mucolipidosis Type Ii Alpha/Beta N-Acetylglucosamine 1-Phosphotransferase Deficiency Deficiency Of N-Acetylglucosamine-1-Phosphotransferase Mucolipidosis, Type Ii, Alpha/Beta Ml2 Type Ii Mucolipidosis
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
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
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
Sphingolipidosis	Sphingolipidoses
Hemihyperplasia, Isolated	Hemihypertrophy Hemihyperplasia Isolated Hemihyperplasia IH Hhp Hemihypertrophy, Isolated Hemi 3 Syndrome Hemicorporal Hypertrophy Isolated Hemihypertrophy Hemi-3 Syndrome
C Syndrome	Opitz Trigonocephaly Syndrome Trigonocephaly Trigonocephaly Syndrome Trigonocephaly C Syndrome Opitz C Trigonocephaly Opitz Trigonocephaly C Syndrome Otcs CSYN
Lysosomal And Lipase Deficiency
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
Pulmonary Edema
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Jankovic-Rivera Syndrome SMAPME Sma-Pme Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome Hereditary Myoclonus With Progressive Distal Muscular Atrophy Jankovic Rivera Syndrome Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy Myoclonus Hereditary Progressive Distal Muscular Atrophy Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy
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
Sea-Blue Histiocyte Disease	Sea-Blue Histiocytosis Sea-Blue Histiocyte Syndrome Histiocytosis, Sea-Blue Inherited Lipemic Splenomegaly SBHD
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Cerebral Lipidosis
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
Niemann-Pick Disease, Type C2	NPC2 Niemann-Pick Disease Type C2 Niemann-Pick C2 Disease Niemann-Pick Disease C2
Gangliosidosis	Gangliosidoses
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
Acquired Hyperkeratosis	Acquired Keratoderma Keratoderma - Acquired Keratoderma, Acquired Keratosis Blennorrhagica
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
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
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
Mucolipidosis
Mucopolysaccharidosis, Type Iva	Mps Iva Galns Deficiency MPS4A Morquio A Disease Galactosamine-6-Sulfatase Deficiency Morquio Syndrome A Mucopolysaccharidosis Iva Mucopolysaccharidosis Type Iva Mpsiva Morquio Disease Type A Mucopolysaccharidosis Type 4a N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency Morquio Syndrome Type A Mps 4a Morquio Disease, Type A Mucopolysaccharidosis 4a Morquio'S Syndrome A Mps Iv A Mucopolysaccharidosis Iv Mucopolysaccharidosis, Mps-Iv-A
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
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 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
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
Nephrotic Syndrome, Type 14	Sphingosine Phosphate Lyase Insufficiency Syndrome Nephrotic Syndrome 14 NPHS14 Splis Nephrotic Syndrome Type 14 Sgpl1 Deficiency Steroid-Resistant Nephrotic Syndrome Type 14 Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
Hereditary Sensory And Autonomic Neuropathy Type 1	Hereditary Sensory And Autonomic Neuropathy Type I Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome Hsan1e Hsan1 Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy Hsn1e Hsnie Hereditary Sensory Neuropathy Type Ie Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory And Autonomic Neuropathy Type 1e Hereditary Sensory Neuropathy With Hearing Loss And Dementia Dnmt1-Complex Disorder Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss Hsn Ie Hereditary Sensory Autonomic Neuropathy, Type 1 Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
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
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
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

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS17994	Smpd1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-134505	Avicin G	Inhibitor	/	Unkown
HY-186165	KARI 101		/	Unkown
HY-RS13447	SMPD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24465	Smpd1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SMPD1	MGD	MGI:98325
Rattus norvegicus	SMPD1	RGD	RGD:1549719
Felis catus	SMPD1	VGNC	VGNC:65501
Canis familiaris	SMPD1	VGNC	VGNC:46569
Macaca mulatta	SMPD1	VGNC	VGNC:77659
Bos taurus	SMPD1	VGNC	VGNC:35029
Others	SMPD1	NCBI