SMPD1 - sphingomyelin phosphodiesterase 1 Gene

Homo sapiens

Also known as ASM; NPD; ASMASE

Gene ID: 6609 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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
631 a.a.

Protein Preferred Names

Protein Names

sphingomyelin phosphodiesterase

Niemann-Pick type A/B

SMPD1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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%

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13447	SMPD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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