PRRT2 - proline rich transmembrane protein 2 Gene

Also Known as PKC; EKD1; ICCA; BFIC2; BFIS2; DSPB3; DYT10; FICCA; IFITMD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 112476

About PRRT2

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:29,812,193-29,815,881 (from NCBI)

This gene has 21 transcripts (splice variants), 229 orthologues, 4 paralogues and is associated with 11 phenotypes. Broad expression in brain (RPKM 25.3), ovary (RPKM 15.9) and 16 other tissues.

Summary

This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

PRRT2 Products (3)

mRNA	Protein	Name
NM_001256442.2	NP_001243371.1	proline-rich transmembrane protein 2 isoform 2
NM_001256443.2	NP_001243372.1	proline-rich transmembrane protein 2 isoform 3
NM_145239.3	NP_660282.2	proline-rich transmembrane protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within neuromuscular process controlling posture	IMP IMP: Inferred from mutant phenotype	22101681	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

PRRT2 Protein Structure

CD225

0
100
200
300
340 a.a.

Protein Preferred Names	Protein Names
proline-rich transmembrane protein 2	dispanin subfamily B member 3

PRRT2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PRRT2	Q7Z6L0	SMIM5	Homo sapiens	Q71RC9	Y2H Array	32296183
Intra	PRRT2	Q7Z6L0	SMIM5	Homo sapiens	Q71RC9	Y2H Prey Pooling	32296183
Intra	PRRT2	Q7Z6L0	TLCD4	Homo sapiens	Q96MV1	Validated Y2H	32296183
Intra	PRRT2	Q7Z6L0	TLCD4	Homo sapiens	Q96MV1	Y2H Array	32296183
Intra	PRRT2	Q7Z6L0	TLCD4	Homo sapiens	Q96MV1	Y2H Prey Pooling	32296183
Intra	PRRT2	Q7Z6L0	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	PRRT2	Q7Z6L0	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	PRRT2	Q7Z6L0	GPRC5D	Homo sapiens	Q9NZD1	Validated Y2H	32296183
Intra	PRRT2	Q7Z6L0	GPRC5D	Homo sapiens	Q9NZD1	Y2H Array	32296183
Intra	PRRT2	Q7Z6L0	GPRC5D	Homo sapiens	Q9NZD1	Y2H Prey Pooling	32296183
Intra	PRRT2	Q7Z6L0	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	PRRT2	Q7Z6L0	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	PRRT2	Q7Z6L0	MFSD14B	Homo sapiens	Q5SR56	Y2H Prey Pooling	32296183
Intra	PRRT2	Q7Z6L0	MFSD14B	Homo sapiens	Q5SR56	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Episodic Kinesigenic Dyskinesia 1	Paroxysmal Kinesigenic Choreoathetosis Paroxysmal Kinesigenic Dyskinesia Dystonia 10 Familial Paroxysmal Kinesigenic Dyskinesia Episodic Kinesigenic Dyskinesia EKD1 Pkc Pkd Dyt10 Familial Pkd Paroxysmal Kinesigenic Choreathetosis Familial Paroxysmal Dystonia Dystonia, Familial Paroxysmal Dyt-Prrt2 Dystonia, Type 10
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	ICCA Icca Syndrome Infantile Convulsions And Choreoathetosis Infantile Convulsions And Paroxysmal Choreoathetosis, Familial Pkd/Ic Familial Infantile Convulsions And Paroxysmal Choreoathetosis Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions Convulsions, Infantile, With Paroxysmal Choreoathetosis, Familial Paroxysmal Kinesigenic Dyskinesia And Infantile Convulsions Icca Syndrome Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions Dyskinetic Syndrome
Seizures, Benign Familial Infantile, 2	BFIS2 Bfic2 Convulsions, Benign Familial Infantile, 2 Benign Familial Infantile Seizures 2 Benign Familial Infantile Seizures, 2 Benign Familial Infantile Convulsions 2 Benign Familial Infantile Convulsions-2 Seizures, Benign Familial Infantile, Type 2 Seizures, Infantile, Benign, Familial, Type 2
Familial Paroxysmal Nonkinesigenic Dyskinesia	Paroxysmal Nonkinesigenic Dyskinesia Paroxysmal Dystonic Choreoathetosis Pnkd Nonkinesigenic Choreoathetosis Familial Paroxysmal Choreoathetosis Mount-Reback Syndrome Pdc Paroxysmal Non-Kinesigenic Dyskinesia Paroxystic Non-Kinesigenic Choreoathetosis Dyskinesia, Nonkinesigenic, Paroxysmal
Prrt2-Associated Paroxysmal Movement Disorders	Prrt2-Pxmd Pxmd-Prrt2
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal Dystonic Choreoathetosis Mount-Reback Syndrome PNKD1 Pdc Fpd1 Dystonia 8 DYT8 Choreoathetosis, Familial Paroxysmal Choreoathetosis, Nonkinesigenic Choreoathetosis Familial Paroxysmal Choreoathetosis Nonkinesigenic Dystonia-8 Familial Paroxysmal Choreoathetosis Dyskinesia, Nonkinesigenic, Paroxysmal, Type 1 Paroxysmal Nonkinesigenic Dyskinesia
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Glut1 Deficiency Syndrome 2	Dystonia 18 Dyt18 Childhood Onset Glut1 Deficiency Syndrome 2 Paroxysmal Exercise-Induced Dystonia GLUT1DS2 Ped With Or Without Epilepsy And/Or Hemolytic Anemia Paroxysmal Exertion-Induced Dyskinesia Ped Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia Glut1 Deficiency Syndrome 2, Childhood Onset Dyt-Slc2a1 Dystonia-18 Paroxysmal Exercise-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia Paroxysmal Exertion-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia Glut1 Deficiency Syndrome, Type 2, Childhood Onset
Familial Or Sporadic Hemiplegic Migraine
Paroxysmal Choreoathetosis	Paroxysmal Nonkinesigenic Dyskinesia
Infancy Electroclinical Syndrome
Myotonia Congenita	Congenital Myotonia, Autosomal Dominant Form Congenital Myotonia Thomsen And Becker Disease Thomsen Disease Thomsen'S Disease Generalized Myotonia Of Thomsen Congenital Myotonic Muscular Dystrophy Myotonia Congenita Nos
Athetosis
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Chromosome 16p11.2 Duplication Syndrome	Proximal 16p11.2 Microduplication Syndrome Proximal Dup(16)(P11.2) Proximal Trisomy 16p11.2 Autism, Susceptibility To, 14b Autism 14b
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Migraine, Familial Hemiplegic, 2	FHM2 Mhp2 Migraine, Familial Basilar Familial Hemiplegic Migraine 2 Familial Hemiplegic Migraine-2 Familiar Basilar Migraine Migraine, Hemiplegic, Familial, Type 2
Developmental And Epileptic Encephalopathy 60	DEE60 Epileptic Encephalopathy, Early Infantile, 60 Eiee60 Developmental And Epileptic Encephalopathy, 60 Early Infantile Epileptic Encephalopathy 60
Chromosome 16p11.2 Deletion Syndrome	Distal 16p11.2 Microdeletion Syndrome 16p11.2 Deletion Syndrome Del(16)(P11.2) Microdeletion 16p11.2 Monosomy 16p11.2 Autism, Susceptibility To, 14a Auts14a Distal Del(16)(P11.2) Distal Monosomy 16p11.2
Episodic Kinesigenic Dyskinesia 2	EKD2 Dystonia 19 Dyt19
Migraine, Familial Hemiplegic, 3	FHM3 Familial Hemiplegic Migraine 3 Mhp3 Migraine, Hemiplegic, Familial, Type 3
Partial Motor Epilepsy	Epilepsy, Partial, Motor Epilepsy, Focal Motor Focal Motor Seizure
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Alternating Hemiplegia Of Childhood	Alternating Hemiplegia Ahc Alternating Hemiplegia Syndrome Hemiplegia, Alternating, Of Childhood Hemiplegia, Crossed
Migraine, Familial Hemiplegic, 1	FHM1 Mhp1 Fhm Familial Hemiplegic Migraine 1 Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia Migraine, Hemiplegic, Familial, Type 1 Hemiplegic Migraine, Familial Type 1
Advanced Sleep Phase Syndrome, Familial, 2	Advanced Sleep Phase Syndrome 2 FASPS2 Advanced Sleep-Phase Syndrome, Familial, 2 Familial Advanced Sleep Phase Syndrome 2 Sleep Phase Syndrome, Advanced, Familial, Type 2
Familial Hemiplegic Migraine	Hemiplegic Migraine, Familial Hemiplegic-Ophthalmoplegic Migraine Fhm Hemiplegic Migraine Familial
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Torticollis	Contracture Of Neck Wry Neck Wry Neck/Torticollis
Gastroenteritis	Cholera Morbus Infectious Colitis, Enteritis And Gastroenteritis Enteritis Due To Astrovirus Rotaviral Gastroenteritis Viral Gastroenteritis Due To Rotavirus
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Dystonia, Dopa-Responsive	Dystonia 5 Dopa-Responsive Dystonia DRD Dyt5 Dystonia-Parkinsonism With Diurnal Fluctuation Dyt-Th Hpd With Diurnal Fluctuation Hereditary Progressive Dystonia With Diurnal Fluctuation Dystonia, Progressive, With Diurnal Variation Segawa Syndrome, Autosomal Dominant Dystonia, Dopa-Responsive, Autosomal Dominant Dopa-Responsive Dystonia, Autosomal Dominant Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia Dyt-Gch1 Dyt-Spr Dystonia 5, Dopa-Responsive Type Hereditary Progressive Dystonia With Marked Diurnal Fluctuation Autosomal Dominant Dopa-Responsive Dystonia Autosomal Dominant Segawa Syndrome Dystonia-5 Progressive Dystonia With Diurnal Fluctuation Dystonia, Type 5, Dopa-Responsive Type
Myotonia
Choreatic Disease	Chorea Hereditary Chorea
Familial Adenomatous Polyposis 1	Gardner Syndrome Brain Tumor-Polyposis Syndrome 2 Familial Polyposis Of The Colon Adenomatous Polyposis Coli FAP1 Adenomatous Polyposis Of The Colon Apc Fpc Gardner'S Syndrome Polyposis, Adenomatous Intestinal Adenoma, Periampullary, Somatic Intestinal Polyposis, Osteomas, Sebaceous Cysts Polyposis Coli And Multiple Hard And Soft Tissue Tumors Apc-Related Attenuated Familial Adenomatous Polyposis Apc-Related Afap Apc-Related Attenuated Fap Apc-Related Attenuated Familial Polyposis Coli Turcot Syndrome With Polyposis Gardners Syndrome Adenomatous Polyposis Coli, Susceptibility To Adenomatous Polyposis, Familial, Type 1
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
Conversion Disorder	Conversion Hysteria Or Reaction Conversion Hysterical Neurosis Hysterical Neurosis, Conversion Type Fnd Functional Movement Disorder Functional Neurological Disorder Dissociative Disorder
Multifocal Dystonia
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome	Door Syndrome Doors Syndrome Digitorenocerebral Syndrome Autosomal Recessive Deafness-Onychodystrophy Syndrome Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome DOORS Drc Syndrome Eronen Syndrome Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Brachydactyly Due To Absence Of Distal Phalanges Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome Deafness, Congenital Onychodystrophy, Recessive Form Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome
Episodic Ataxia, Type 2	Episodic Ataxia Type 2 EA2 Apca Capa Cerebellopathy, Hereditary Paroxysmal Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive Episodic Ataxia With Nystagmus Ataxia, Episodic, With Nystagmus Episodic Ataxia, Nystagmus-Associated Ataxia, Familial Paroxysmal Acetazolamide-Responsive Episodic Ataxia Syndrome Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia Ataxia, Familial, Paroxysmal Nystagmus-Associated Episodic Ataxia Familial Paroxysmal Ataxia Episodic Ataxia 2 Ea-2 Episodic Ataxia Nystagmus-Associated Hereditary Paroxysmal Cerebellopathy Ataxia, Episodic, Type 2
Episodic Ataxia, Type 8	Episodic Ataxia Type 8 EA8 Episodic Ataxia With Slurred Speech
Neonatal Period Electroclinical Syndrome
Developmental And Epileptic Encephalopathy 11	Epileptic Encephalopathy, Early Infantile, 11 DEE11 Eiee11 Developmental And Epileptic Encephalopathy, 11 Early Infantile Epileptic Encephalopathy 11 Encephalopathy, Developmental And Epileptic, Type 11
Childhood Electroclinical Syndrome
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Movement Disease	Movement Disorders Movement Disorder
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
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
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11242	PRRT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PRRT2	VGNC	VGNC:97811
Mus musculus	PRRT2	MGD	MGI:1916267
Rattus norvegicus	PRRT2	RGD	RGD:1564195
Others	PRRT2	NCBI