PPT1 - palmitoyl-protein thioesterase 1 Gene

Homo sapiens

Also known as PPT; CLN1; INCL

Gene ID: 5538 | Gene type: protein coding

About PPT1

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:40,071,461-40,097,252 (from NCBI)

This gene has 19 transcripts (splice variants), 221 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in spleen (RPKM 86.1), lung (RPKM 62.1) and 25 other tissues.

Summary

The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded Enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]

PPT1 Products(3)

mRNA	Protein	Name
NM_000310.4	NP_000301.1	palmitoyl-protein thioesterase 1 isoform 1 precursor
NM_001142604.2	NP_001136076.1	palmitoyl-protein thioesterase 1 isoform 2 precursor
NM_001363695.2	NP_001350624.1	palmitoyl-protein thioesterase 1 isoform 3 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables long-chain fatty acyl-CoA hydrolase activity	IDA IDA: Inferred from direct assay	10658183	GOA
enables lysophosphatidic acid binding	IDA IDA: Inferred from direct assay	18317235	GOA
enables palmitoyl-(protein) hydrolase activity	IDA IDA: Inferred from direct assay	10658183	GOA
enables palmitoyl-(protein) hydrolase activity	IMP IMP: Inferred from mutant phenotype	7637805	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17237713	GOA
enables sulfatide binding	IDA IDA: Inferred from direct assay	18317235	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	7637805	GOA
involved in lipid catabolic process	IDA IDA: Inferred from direct assay	8816748	GOA
involved in lysosomal lumen acidification	IMP IMP: Inferred from mutant phenotype	11722572	GOA
involved in membrane raft organization	IMP IMP: Inferred from mutant phenotype	15929065	GOA
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	15929065	GOA
involved in negative regulation of cell growth	IMP IMP: Inferred from mutant phenotype	10737604	GOA
involved in negative regulation of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	10737604	GOA
involved in negative regulation of toll-like receptor 9 signaling pathway	IDA IDA: Inferred from direct assay	14716310	GOA
involved in nervous system development	IMP IMP: Inferred from mutant phenotype	7637805	GOA
acts upstream of or within pinocytosis	IMP IMP: Inferred from mutant phenotype	16542649	GOA
involved in positive regulation of pinocytosis	IMP IMP: Inferred from mutant phenotype	16542649	GOA
involved in positive regulation of receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	16542649	GOA
involved in protein depalmitoylation	IDA IDA: Inferred from direct assay	10658183	GOA
involved in protein transport	IMP IMP: Inferred from mutant phenotype	10737604	GOA
acts upstream of or within receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	16542649	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	7637805	GOA
located in axon	IDA IDA: Inferred from direct assay	12483688	GOA
located in extracellular region	IDA IDA: Inferred from direct assay	8895569	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	14716310	GOA
located in lysosome	IDA IDA: Inferred from direct assay	8895569	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	15929065	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10992246	GOA
located in synaptic vesicle	IDA IDA: Inferred from direct assay	12483688	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

PPT1 Protein Structure

Palm_thioest

0
100
200
306 a.a.

Protein Preferred Names

Protein Names

palmitoyl-protein thioesterase 1

ceroid-palmitoyl-palmitoyl-protein thioesterase 1

Recombinant PPT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71230	PPT1 Protein, Human (HEK293, His)	P50897-1 (D28-G306)	≥95%

Related Diseases

Diseases

Alias

Ceroid Lipofuscinosis, Neuronal, 1

Neuronal Ceroid Lipofuscinosis 1	CLN1
Infantile Neuronal Ceroid Lipofuscinosis	Cln1 Disease
Santavuori-Haltia Disease	Ceroid Lipofuscinosis, Neuronal, 1, Variable Age At Onset
Neuronal Ceroid Lipofuscinosis 1 Variable Age Of Onset	Ceroid Lipofuscinosis Neuronal 1
Cln1 Variable Age At Onset	Infantile Batten Disease
Neuronal Ceroid Lipofuscinosis, Infantile	Hagberg-Santavuori Disease
Incl	Juvenile Neuronal Ceroid Lipofuscinosis With Granular Osmiophilic Deposits
Neuronal Ceroid Lipofuscinosis With Variable Age At Onset	Santavuori Disease
Lipofuscinosis, Ceroid, Neuronal, Type 1	Ceroid Lipofuscinosis, Neuronal 1, Infantile

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

Neuronal Ceroid-Lipofuscinoses

Infantile Neuronal Ceroid Lipofuscinosis	Santavuori Disease
Hagberg-Santavuori Disease	Incl
Infantile Ncl	Santavuori-Haltia Disease
Neuronal Ceroid-Lipofuscinosis, Infantile	Lipofuscin Storage Disease
Neuronal Ceroid Lipofuscinoses	Juvenile Neuronal Ceroid Lipofuscinosis

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Peripheral Retinal Degeneration

Peripheral Degeneration Of Retina	Degeneration Of Retina Nos
Reticular Retinal Degeneration	Retinal Degeneration

Ceroid Lipofuscinosis, Neuronal, 2

Jansky-Bielschowsky Disease	Neuronal Ceroid Lipofuscinosis 2
CLN2	Lincl
Cln2 Disease	Late-Infantile Neuronal Ceroid Lipofuscinosis
Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset	Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset
Cln2 Disease, Juvenile	Cln2 Disease, Late Infantile
Late-Infantile Batten Disease	Neuronal Ceroid Lipofuscinosis, Late-Infantile
Classic Late Infantile Ncl	Classic Late Infantile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset	Lipofuscinosis, Ceroid, Neuronal, Type 2
Late-Infantile Neuronal Ceroid Lipfuscinosis

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Ceroid Lipofuscinosis, Neuronal, 7

CLN7	Neuronal Ceroid Lipofuscinosis 7
Cln7 Disease	Cln7 Disease, Late Infantile
Mfsd8-Related Neuronal Ceroid Lipofuscinosis	Turkish Variant Late Infantile Ncl
Lipofuscinosis, Ceroid, Neuronal, Type 7

Spastic Ataxia

Spax	Ataxia, Spastic

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Ceroid Lipofuscinosis, Neuronal, 11

Neuronal Ceroid Lipofuscinosis 11	CLN11
Cln11 Disease	Grn-Related Neuronal Ceroid-Lipofuscinosis
Lipofuscinosis, Ceroid, Neuronal, Type 11

Lysosomal Storage Disease

Lysosomal Storage Diseases	Disorder Of Lysosomal Enzyme
Inborn Lysosomal Enzyme Disorder	Lysosomal Storage Metabolism Disorder
Lysosomal Storage Disorder

Ceroid Lipofuscinosis, Neuronal, 6b

CLN4A	Neuronal Ceroid Lipofuscinosis 4a
CLN6B	Neuronal Ceroid Lipofuscinosis 6b
Autosomal Recessive Neuronal Ceroid Lipofuscinosis 4a	Cln4a Disease
Ceroid Lipofuscinosis, Neuronal, 4a , Autosomal Recessive	Adult Neuronal Ceroid Lipofuscinosis
Cln6 Disease Kufs Type A	Kufs Disease
Kufs Disease Autosomal Recessive	Kufs Disease, Autosomal Recessive

Ceroid Lipofuscinosis, Neuronal, 9

Neuronal Ceroid Lipofuscinosis 9	CLN9
Cln 9	Cln9 Disease

Ceroid Lipofuscinosis, Neuronal, 10

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency	Neuronal Ceroid Lipofuscinosis 10
CLN10	Cathepsin D Deficiency
Congenital Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient
Cln10 Disease	Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient
Cln10 Disease, Adult	Cln10 Disease, Congenital
Cln10 Disease, Juvenile	Cln10 Disease, Late Infantile
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient	Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
Congenital Ncl	Lipofuscinosis, Ceroid, Neuronal, Type 10
Neuronal Ceroid Lipofuscinosis, Congenital

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Northern Epilepsy	Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
Epmr	Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Northern Epilepsy Syndrome	Epilepsy, Progressive, With Mental Retardation
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	Progressive Epilepsy With Mental Retardation, Northern Epilepsy
Cln8 Disease, Northern Epilepsy Variant	Ncl, Northern Epilepsy Variant
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	CLN8NE
Ceroid Lipofuscinosis, Neuronal, 8

Kanzaki Disease

Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Naga Deficiency Type 2
Schindler Disease, Type Ii	Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
Schindler Disease Type 2	Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset	Naga Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset	KANZD
Naga Deficiency Type Ii	Schindler Disease Type Ii

Schindler Disease

Alpha-N-Acetylgalactosaminidase Deficiency	Naga Deficiency
Alpha-Galactosidase B Deficiency	Alpha-Galnac Deficiency, Schindler Type
Alpha-Naga Deficiency	Angiokeratoma Corporis Diffusum-Glycopeptiduria
Galb Deficiency	Kanzaki Disease
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum	Neuroaxonal Dystrophy, Schindler Type
Neuronal Axonal Dystrophy, Schindler Type	Schindler Disease, Type I
Schindler Disease, Type Ii

Visual Epilepsy

Seizures	Epilepsy, Visual
Visual Seizure	Acute Symptomatic Seizure
Provoked Seizure	Nonepileptic Seizure Disorder
Uncontrolled Seizures	Seizure Nos
Fits Nos	Onset Seizure Nos
Seizure Disturbance

Progressive Myoclonus Epilepsy 3

Cln14 Disease	Epm3
Neuronal Ceroid Lipofuscinosis 14	Pme Type 3
Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency	Progressive Myoclonus Epilepsy Type 3
Epilepsy, Progressive Myoclonic 3

Spinocerebellar Ataxia, Autosomal Recessive 7

SCAR7	Autosomal Recessive Spinocerebellar Ataxia 7
Spinocerebellar Ataxia Autosomal Recessive 7	Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Autosomal Recessive Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia, Autosomal Recessive, 7	Ataxia, Spinocerebellar, Autosomal Recessive, Type 7

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]

Gm2 Gangliosidosis

Gangliosidosis Gm2

Gangliosidoses, Gm2

Mannosidosis, Alpha B, Lysosomal

Alpha-Mannosidosis	Lysosomal Alpha-D-Mannosidase Deficiency
Deficiency Of Alpha-Mannosidase	Alpha-Mannosidase B Deficiency
Mannosidosis	MANSA
Mannosidosis, Alpha-, Types I And Ii	Alpha-D-Mannosidosis
Alpha-Mannosidase Deficiency	Α-Mannosidosis
Alpha Mannosidase B Deficiency	Mannosidosis, Alpha B Lysosomal
Lysosomal Alpha B Mannosidosis	Alpha-Mannosidosis, Infantile Form
Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form	Alpha-Mannosidosis, Adult Form
Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form	Alpha-Mannosidosis Types I And Ii
Mannosidase Deficiency Diseases

Gangliosidosis

Gangliosidoses

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

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

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

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

Retinal Degeneration

Degeneration Of Retina

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

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease	Epm1
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
Unverricht - Lundborg Disease	Unverricht'S Disease
Epilepsy, Progressive Myoclonic Type 1	Epilepsy, Progressive Myoclonus 1
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy	Baltic Myoclonic Epilepsy
Baltic Myoclonus	Baltic Myoclonus Epilepsy
Lundborg-Unverricht Syndrome	Mediterranean Myoclonic Epilepsy
Pme	Progressive Myoclonic Epilepsy
Progressive Myoclonus Epilepsy 1	Uld
Myoclonic Epilepsies, Progressive

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

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Mucolipidosis

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

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

Sphingolipidosis

Sphingolipidoses

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, 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]

Photosensitive Epilepsy

Pse	Photogenic Epilepsy
Photoparoxysmal Response	Reflex Epilepsy, Photosensitive
Photoparoxysmal Response 1

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

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

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

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-111621	DC661		99.53%	Unkown
HY-120252	ABC44	Inhibitor	98.7%	Unkown
HY-RS11038	PPT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PPT1	VGNC	VGNC:76386
Bos taurus	PPT1	VGNC	VGNC:33277
Canis familiaris	PPT1	VGNC	VGNC:44929
Mus musculus	PPT1	MGD	MGI:1298204
Felis catus	PPT1	VGNC	VGNC:69025
Rattus norvegicus	PPT1	RGD	RGD:61994
Others	PPT1	NCBI