PMP22 - peripheral myelin protein 22 Gene

Also Known as DSS; CIDP; GAS3; HNPP; CMT1A; CMT1E; GAS-3; Sp110; HMSNIA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5376

About PMP22

Cytogenetic location: 17p12 Genomic coordinates (GRCh38): 17:15,229,779-15,265,326 (from NCBI)

This gene has 31 transcripts (splice variants), 261 orthologues, 10 paralogues and is associated with 12 phenotypes. Broad expression in small intestine (RPKM 54.6), placenta (RPKM 43.6) and 22 other tissues.

Summary

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PMP22 Products (6)

mRNA	Protein	Name
NM_000304.4	NP_000295.1	peripheral myelin protein 22 isoform 1
NM_001281455.2	NP_001268384.1	peripheral myelin protein 22 isoform 1
NM_001281456.2	NP_001268385.1	peripheral myelin protein 22 isoform 1
NM_001330143.2	NP_001317072.1	peripheral myelin protein 22 isoform 2
NM_153321.3	NP_696996.1	peripheral myelin protein 22 isoform 1
NM_153322.3	NP_696997.1	peripheral myelin protein 22 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12107182	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in apoptotic process	IDA IDA: Inferred from direct assay	12107182	GOA
involved in bleb assembly	IDA IDA: Inferred from direct assay	12107182	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	12107182	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

PMP22 Protein Structure

PMP22_Claudin

0
100
160 a.a.

Protein Preferred Names	Protein Names
peripheral myelin protein 22	Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)

PMP22 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PMP22	Q01453	PGRMC2	Homo sapiens	O15173	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	PGRMC2	Homo sapiens	O15173	Y2H Array	32296183
Intra	PMP22	Q01453	TMX1	Homo sapiens	Q9H3N1	Validated Y2H	32296183
Intra	PMP22	Q01453	TMX1	Homo sapiens	Q9H3N1	Y2H Array	32296183
Intra	PMP22	Q01453	TMX1	Homo sapiens	Q9H3N1	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	PMP22	Q01453	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	PMP22	Q01453	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	PMP22	Q01453	ARL13B	Homo sapiens	Q3SXY8	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	ARL13B	Homo sapiens	Q3SXY8	Y2H Array	32296183
Intra	PMP22	Q01453	ARL13B	Homo sapiens	Q3SXY8	Validated Y2H	32296183
Intra	PMP22	Q01453	TMEM80	Homo sapiens	Q96HE8	Y2H Array	32296183
Intra	PMP22	Q01453	TMEM80	Homo sapiens	Q96HE8	Validated Y2H	32296183
Intra	PMP22	Q01453	TMEM80	Homo sapiens	Q96HE8	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	KCNJ6	Homo sapiens	P48051	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	KCNJ6	Homo sapiens	P48051	Y2H Array	32296183
Intra	PMP22	Q01453	STOM	Homo sapiens	P27105	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	STOM	Homo sapiens	P27105	Y2H Array	32296183
Intra	PMP22	Q01453	AQP2	Homo sapiens	P41181	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	AQP2	Homo sapiens	P41181	Y2H Array	32296183
Intra	PMP22	Q01453	OPRM1	Homo sapiens	P35372-10	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	OPRM1	Homo sapiens	P35372-10	Y2H Array	32296183
Intra	PMP22	Q01453	GPR61	Homo sapiens	Q9BZJ8	Y2H Array	32296183
Intra	PMP22	Q01453	GPR61	Homo sapiens	Q9BZJ8	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	GPR61	Homo sapiens	Q9BZJ8	Validated Y2H	32296183
Intra	PMP22	Q01453	ASGR2	Homo sapiens	P07307-3	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	ASGR2	Homo sapiens	P07307-3	Y2H Array	32296183
Intra	PMP22	Q01453	CLEC12B	Homo sapiens	Q2HXU8-2	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CLEC12B	Homo sapiens	Q2HXU8-2	Validated Y2H	32296183
Intra	PMP22	Q01453	CLEC12B	Homo sapiens	Q2HXU8-2	Y2H Array	32296183
Intra	PMP22	Q01453	CEACAM3	Homo sapiens	P40198	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CEACAM3	Homo sapiens	P40198	Y2H Array	32296183
Intra	PMP22	Q01453	TLCD4	Homo sapiens	Q96MV1	Y2H Array	32296183
Intra	PMP22	Q01453	TLCD4	Homo sapiens	Q96MV1	Validated Y2H	32296183
Intra	PMP22	Q01453	TLCD4	Homo sapiens	Q96MV1	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CLDN6	Homo sapiens	P56747	Y2H Array	32296183
Intra	PMP22	Q01453	CLDN6	Homo sapiens	P56747	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	GPRC5D	Homo sapiens	Q9NZD1	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	GPRC5D	Homo sapiens	Q9NZD1	Validated Y2H	32296183
Intra	PMP22	Q01453	GPRC5D	Homo sapiens	Q9NZD1	Y2H Array	32296183
Intra	PMP22	Q01453	TM4SF18	Homo sapiens	Q96CE8	Validated Y2H	32296183
Intra	PMP22	Q01453	TM4SF18	Homo sapiens	Q96CE8	Y2H Array	32296183
Intra	PMP22	Q01453	TM4SF18	Homo sapiens	Q96CE8	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CLDN18	Homo sapiens	P56856	Y2H Array	32296183
Intra	PMP22	Q01453	CLDN18	Homo sapiens	P56856	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	SCN3B	Homo sapiens	Q9NY72	Validated Y2H	32296183
Intra	PMP22	Q01453	SCN3B	Homo sapiens	Q9NY72	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	SCN3B	Homo sapiens	Q9NY72	Y2H Array	32296183
Intra	PMP22	Q01453	GJA8	Homo sapiens	P48165	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	GJA8	Homo sapiens	P48165	Y2H Array	32296183
Intra	PMP22	Q01453	SPACA1	Homo sapiens	Q9HBV2	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	SPACA1	Homo sapiens	Q9HBV2	Validated Y2H	32296183
Intra	PMP22	Q01453	SPACA1	Homo sapiens	Q9HBV2	Y2H Array	32296183
Intra	PMP22	Q01453	SLC18A1	Homo sapiens	P54219-3	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	SLC18A1	Homo sapiens	P54219-3	Y2H Array	32296183
Intra	PMP22	Q01453	CLEC14A	Homo sapiens	Q86T13	Y2H Array	32296183
Intra	PMP22	Q01453	CLEC14A	Homo sapiens	Q86T13	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CLEC14A	Homo sapiens	Q86T13	Validated Y2H	32296183
Intra	PMP22	Q01453	ERVFRD-1	Homo sapiens	P60508	Y2H Array	32296183
Intra	PMP22	Q01453	ERVFRD-1	Homo sapiens	P60508	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	SHISAL1	Homo sapiens	Q3SXP7	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	SHISAL1	Homo sapiens	Q3SXP7	Y2H Array	32296183
Intra	PMP22	Q01453	SHISAL1	Homo sapiens	Q3SXP7	Validated Y2H	32296183
Intra	PMP22	Q01453	C16orf54	Homo sapiens	Q6UWD8	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	C16orf54	Homo sapiens	Q6UWD8	Validated Y2H	32296183
Intra	PMP22	Q01453	C16orf54	Homo sapiens	Q6UWD8	Y2H Array	32296183
Intra	PMP22	Q01453	GPR42	Homo sapiens	O15529	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	GPR42	Homo sapiens	O15529	Y2H Array	32296183
Intra	PMP22	Q01453	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	PMP22	Q01453	FAM209A	Homo sapiens	Q5JX71	Validated Y2H	32296183
Intra	PMP22	Q01453	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CLDN5	Homo sapiens	O00501	Y2H Array	32296183
Intra	PMP22	Q01453	CLDN5	Homo sapiens	O00501	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	TSPAN12	Homo sapiens	O95859	Y2H Array	32296183
Intra	PMP22	Q01453	TSPAN12	Homo sapiens	O95859	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	ATP6AP2	Homo sapiens	O75787	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	ATP6AP2	Homo sapiens	O75787	Y2H Array	32296183
Intra	PMP22	Q01453	FFAR2	Homo sapiens	O15552	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	FFAR2	Homo sapiens	O15552	Y2H Array	32296183
Intra	PMP22	Q01453	FCGRT	Homo sapiens	P55899	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	FCGRT	Homo sapiens	P55899	Y2H Array	32296183
Intra	PMP22	Q01453	CD69	Homo sapiens	Q07108	Validated Y2H	32296183
Intra	PMP22	Q01453	CD69	Homo sapiens	Q07108	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CD69	Homo sapiens	Q07108	Y2H Array	32296183
Intra	PMP22	Q01453	KCNN4	Homo sapiens	O15554	Y2H Array	32296183
Intra	PMP22	Q01453	KCNN4	Homo sapiens	O15554	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CD3G	Homo sapiens	P09693	Y2H Array	32296183
Intra	PMP22	Q01453	CD3G	Homo sapiens	P09693	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	IFNGR2	Homo sapiens	P38484	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	IFNGR2	Homo sapiens	P38484	Y2H Array	32296183
Intra	PMP22	Q01453	SDC4	Homo sapiens	P31431	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	SDC4	Homo sapiens	P31431	Y2H Array	32296183
Intra	PMP22	Q01453	EBP	Homo sapiens	Q15125	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	EBP	Homo sapiens	Q15125	Y2H Array	32296183
Intra	PMP22	Q01453	EBP	Homo sapiens	Q15125	Validated Y2H	32296183
Intra	PMP22	Q01453	EMP1	Homo sapiens	P54849	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	EMP1	Homo sapiens	P54849	Y2H Array	32296183
Intra	PMP22	Q01453	EDA	Homo sapiens	Q92838	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	EDA	Homo sapiens	Q92838	Validated Y2H	32296183
Intra	PMP22	Q01453	EDA	Homo sapiens	Q92838	Y2H Array	32296183
Intra	PMP22	Q01453	SGCB	Homo sapiens	Q16585	Validated Y2H	32296183
Intra	PMP22	Q01453	SGCB	Homo sapiens	Q16585	Y2H Array	32296183
Intra	PMP22	Q01453	SGCB	Homo sapiens	Q16585	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CREB3	Homo sapiens	O43889-2	Validated Y2H	25910212
Intra	PMP22	Q01453	CREB3	Homo sapiens	O43889-2	Y2H Bait-Prey Pool	25910212
Intra	PMP22	Q01453	CREB3	Homo sapiens	O43889-2	Y2H Array	25910212
Intra	PMP22	Q01453	TM4SF19	Homo sapiens	Q96DZ7	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	TM4SF19	Homo sapiens	Q96DZ7	Validated Y2H	32296183
Intra	PMP22	Q01453	TM4SF19	Homo sapiens	Q96DZ7	Y2H Array	32296183
Intra	PMP22	Q01453	CD53	Homo sapiens	P19397	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CD53	Homo sapiens	P19397	Y2H Array	32296183
Intra	PMP22	Q01453	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	CREB3L1	Homo sapiens	Q96BA8	Validated Y2H	32296183
Intra	PMP22	Q01453	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	PMP22	Q01453	PDZK1IP1	Homo sapiens	Q13113	Validated Y2H	32296183
Intra	PMP22	Q01453	PDZK1IP1	Homo sapiens	Q13113	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	PDZK1IP1	Homo sapiens	Q13113	Y2H Array	32296183
Intra	PMP22	Q01453	MS4A7	Homo sapiens	Q9GZW8	Y2H Array	32296183
Intra	PMP22	Q01453	MS4A7	Homo sapiens	Q9GZW8	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	MS4A7	Homo sapiens	Q9GZW8	Validated Y2H	32296183
Intra	PMP22	Q01453	TMEM139	Homo sapiens	Q8IV31	Y2H Array	32296183
Intra	PMP22	Q01453	TMEM139	Homo sapiens	Q8IV31	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	TMEM139	Homo sapiens	Q8IV31	Validated Y2H	32296183
Intra	PMP22	Q01453	SMIM3	Homo sapiens	Q9BZL3	Validated Y2H	32296183
Intra	PMP22	Q01453	SMIM3	Homo sapiens	Q9BZL3	Y2H Prey Pooling	25416956
Intra	PMP22	Q01453	SMIM3	Homo sapiens	Q9BZL3	Y2H Array	25910212
Intra	PMP22	Q01453	SMIM3	Homo sapiens	Q9BZL3	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	SMIM3	Homo sapiens	Q9BZL3	Y2H Array	25416956
Intra	PMP22	Q01453	SMIM3	Homo sapiens	Q9BZL3	Y2H Bait-Prey Pool	25910212
Intra	PMP22	Q01453	SMIM3	Homo sapiens	Q9BZL3	Y2H Array	32296183
Intra	PMP22	Q01453	SMIM3	Homo sapiens	Q9BZL3	Validated Y2H	25416956
Intra	PMP22	Q01453	SMIM3	Homo sapiens	Q9BZL3	Validated Y2H	25910212
Intra	PMP22	Q01453	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	REEP4	Homo sapiens	Q9H6H4	Validated Y2H	32296183
Intra	PMP22	Q01453	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	PMP22	Q01453	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183
Intra	PMP22	Q01453	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	PMP22	Q01453	SYT2	Homo sapiens	Q8N9I0	Validated Y2H	32296183
Intra	PMP22	Q01453	SYT2	Homo sapiens	Q8N9I0	Y2H Array	32296183
Intra	PMP22	Q01453	SYT2	Homo sapiens	Q8N9I0	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	TMEM14B	Homo sapiens	Q9NUH8	Validated Y2H	32296183
Intra	PMP22	Q01453	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	PMP22	Q01453	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	KLRC1	Homo sapiens	P26715	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	KLRC1	Homo sapiens	P26715	Y2H Array	32296183
Intra	PMP22	Q01453	TMEM30B	Homo sapiens	Q3MIR4	Validated Y2H	32296183
Intra	PMP22	Q01453	TMEM30B	Homo sapiens	Q3MIR4	Y2H Array	32296183
Intra	PMP22	Q01453	TMEM30B	Homo sapiens	Q3MIR4	Y2H Prey Pooling	32296183
Intra	PMP22	Q01453	SLC38A1	Homo sapiens	Q9H2H9	Validated Y2H	32296183
Intra	PMP22	Q01453	SLC38A1	Homo sapiens	Q9H2H9	Y2H Array	32296183
Intra	PMP22	Q01453	SLC38A1	Homo sapiens	Q9H2H9	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

PMP22 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811125	GAS3 Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	Charcot-Marie-Tooth Disease Type 1a CMT1A Charcot-Marie-Tooth Disease, Type Ia Hmsn1a Hereditary Motor And Sensory Neuropathy Ia Hmsn Ia Charcot-Marie-Tooth Neuropathy, Type 1a Charcot-Marie-Tooth Disease, Type 1a Charcot-Marie-Tooth Neuropathy Type 1a Hereditary Motor And Sensory Neuropathy 1a Microduplication 17p12 Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a Cmt 1a Charcot Marie Tooth Disease Type 1a Hmsn 1a Charcot-Marie-Tooth Disease 1a Charcot-Marie-Tooth Disease Demyelinating Type 1a Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
Neuropathy, Hereditary, With Liability To Pressure Palsies	Tomaculous Neuropathy Hereditary Neuropathy With Liability To Pressure Palsies HNPP Polyneuropathy, Familial Recurrent Neuropathy, Recurrent, With Pressure Palsies Current Pressure-Sensitive Neuropathy Familial Recurrent Polyneuropathy Heterozygous Microdeletion 17p11.2p12 Potato-Grubbing Palsy Tulip-Bulb Digger'S Palsy Compression Neuropathy Entrapment Neuropathy Familial Pressure Sensitive Neuropathy Hereditary Motor And Sensory Neuropathy Hereditary Pressure Sensitive Neuropathy Inherited Tendency To Pressure Palsies Hereditary Liability To Pressure Palsies Nerve Compression Syndrome Entrapment Neuropathies Hereditary Motor And Sensory Neuropathies
Hypertrophic Neuropathy Of Dejerine-Sottas	Dejerine-Sottas Disease Dejerine-Sottas Syndrome Charcot-Marie-Tooth Disease Type 3 DSS Hereditary Motor And Sensory Neuropathy Type Iii Hmsn3 Dejerine-Sottas Neuropathy Hmsn Iii Charcot-Marie-Tooth Disease, Type 3 Cmt3 Dsn Hmsn 3 Hereditary Motor And Sensory Neuropathy Type 3 Hereditary Motor And Sensory Neuropathy 3 Hypertrophic Neuropathy Of Infancy Charcot-Marie-Tooth Disease Demyelinating Type 4f Charcot-Marie-Tooth Disease Type 4f Charcot-Marie-Tooth Neuropathy Type 4f Cmt4f Hereditary Motor And Sensory Neuropathy Iii Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
Guillain-Barre Syndrome, Familial	GBS Acute Inflammatory Demyelinating Polyneuropathy Polyneuropathy, Inflammatory Demyelinating, Acute Aidp Neuropathy, Inflammatory Demyelinating Inflammatory Demyelinating Polyneuropathy IDP Polyneuropathy, Inflammatory Demyelinating Guillain-Barré Syndrome Guillain Barre Syndrome Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Ascending Paralysis Acute Encephalomyeloradiculoneuritis Chronic Polyradiculopathy Landry'S Paralysis Landry'S Disease
Roussy-Levy Hereditary Areflexic Dystasia	Roussy-Levy Syndrome Roussy-Lévy Syndrome Charcot-Marie-Tooth Disease Roussy Levy Syndrome Charcot-Marie-Tooth-Roussy-Levy Disease Hmsn I Hereditary Motor Sensory Neuropathy I Hereditary Areflexic Dystasia Roussy Levy Hereditary Areflexic Dystasia Roussy-Levy Disease Hereditary Areflexic Dystasia, Roussy-Levy Type ROULS Hereditary Motor And Sensory Neuropathy Type I
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Guillain-Barre Syndrome	Guillain-Barré Syndrome Acute Inflammatory Polyneuropathy Gbs Acute Inflammatory Demyelinating Polyneuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Infective Polyneuritis Acute Inflammatory Demyelinating Polyradiculopathy Acute Postinfectious Polyneuropathy Infectious Neuronitis Post-Infectious Polyneuritis Postinfectious Polyneuritis Acute Autoimmune Peripheral Neuropathy Acute Immune-Mediated Polyneuropathy Acute Inflammatory Neuropathy Guillain-Barré-Strohl Syndrome Landry'S Ascending Paralysis Landry-Guillain-Barre-Strohl Syndrome Post-Infective Polyneuritis Acute Infectious Polyneuritis Fisher Syndrome Landry-Guillain-Barre Syndrome Guillain-Barre-Strohl Syndrome Variant Of Guillain-Barre Syndrome Variant Of Gbs Aidp Acute Idiopathic Demyelinating Polyneuropathy Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form Miller Fisher Syndrome
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Hereditary Neuropathies	Hereditary Neuropathy
Polyradiculoneuropathy
Chronic Inflammatory Demyelinating Polyradiculoneuropathy	Chronic Inflammatory Demyelinating Polyneuropathy Cidp Polyradiculoneuropathy Chronic Inflammatory Demyelinating Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Mononeuropathy	Mononeuropathies
Polyneuropathy	Polyneuropathies
Nerve Compression Syndrome	Entrapment Neuropathies Compression Neuropathy Entrapment Neuropathy Peripheral Nerve Entrapment Syndrome Nerve Compression Syndromes Hereditary Liability To Pressure Palsies
Demyelinating Polyneuropathy	Peripheral Demyelinating Neuropathy Demyelinating Peripheral Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b	Charcot-Marie-Tooth Disease Type 1b CMT1B Hereditary Motor And Sensory Neuropathy Ib Hmsn Ib Hmsn1b Peroneal Muscular Atrophy Charcot-Marie-Tooth Disease, Type 1b Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy Charcot-Marie-Tooth Neuropathy Type 1b Charcot-Marie-Tooth Disease, Type Ib Hereditary Motor And Sensory Neuropathy I Hmsn I Hmsn1 Charcot-Marie-Tooth Neuropathy, Type 1b Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b Charcot-Marie-Tooth Disease 1b Charcot-Marie-Tooth Disease Demyelinating Type 1b Hmsn Type I Hereditary Motor And Sensory Neuropathy Type I Charcot-Marie-Tooth Disease
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Neuritis	Peripheral Neuritis
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Brachial Plexus Neuropathy	Brachial Plexopathy Brachial Plexus Neuropathies Brachial Plexus Disorder Bpn - [Brachial Plexus Neuropathy] Brachial Plexus Disease Neuropathic Plexus Brachialis Brachial Plexus Syndrome Brachial Plexus Irritation Brachial Plexus Lesion Brachial Plexus Pressure Compression Of Brachial Plexus
Carpal Tunnel Syndrome	Cts Carpal Tunnel Syndrome, Familial Carpal Tunnel Syndrome 1 CTS1 Amyotrophy, Thenar, Of Carpal Origin Carpal Tunnel Median Neuropathy Cts - Carpal Tunnel Syndrome Median Nerve Entrapment Carpal Canal Carpal Tunnel Compression Neuropathy, Carpal Tunnel Distal Median Nerve Compression Distal Median Nerve Entrapment Entrapment Neuropathy, Carpal Tunnel Median Neuropathy, Carpal Tunnel Median Neuropathy Carpal Tunnel Thenar Amyotrophy Of Crapal Origin
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Sensory Peripheral Neuropathy	Sensory Neuropathy Peripheral Sensory Neuropathy Hereditary Sensory And Autonomic Neuropathies
Ulnar Neuropathy	Ulnar Neuropathies
Asymmetric Motor Neuropathy
Tibial Nerve Palsy
Pelizaeus-Merzbacher Disease	PMD HLD1 Pelizaeus-Merzbacher Brain Sclerosis Leukodystrophy, Hypomyelinating, 1 Diffuse Familial Brain Sclerosis Pelizaeus Merzbacher Brain Sclerosis Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type Cockayne-Pelizaeus-Merzbacher Disease Hypomyelinating Leukodystrophy 1 Leukodystrophy, Sudanophilic Pelizaeus Merzbacher Disease Hypomyelinating Leukodystrophy, 1 Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease, Connatal Form Connatal Pmd Pelizaeus-Merzbacher Disease Type Ii Severe Pmd Null Syndrome Plp1 Null Syndrome Pelizaeus-Merzbacher Disease, Null Syndrome Brain Sclerosis Diffuse Familial Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type Leukodystrophy Hypomyelinating 1 Diffuse Cerebral Sclerosis Of Schilder
Lumbosacral Plexus Lesion	Lumbosacral Plexus Lesions
Diabetic Neuropathy	Diabetic Neuropathies
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c	Charcot-Marie-Tooth Disease Type 1c CMT1C Hmsn1c Hmsn Ic Charcot-Marie-Tooth Disease, Type 1c Charcot-Marie-Tooth Neuropathy Type 1c Cmt, Slow Nerve Conduction Type C Charcot-Marie-Tooth Neuropathy, Type 1c Neuropathy, Hereditary Motor And Sensory, Type Ic Cmt Slow Nerve Conduction Type C Neuropathy Hereditary Motor And Sensory Type 1c Charcot-Marie-Tooth Disease 1c Charcot-Marie-Tooth Disease Demyelinating Type 1c Hereditary Motor And Sensory Neuropathy Ic Charcot-Marie-Tooth Disease, Type Ic
Peroneal Nerve Paralysis	Peroneal Nerve Palsy
Median Neuropathy
Type 1 Diabetes Mellitus 6	Diabetes Mellitus, Insulin-Dependent, 6 Iddm6 Insulin-Dependent Diabetes Mellitus 6 T1D6 Insulin-Dependent Diabetes Mellitus-6
Plexopathy
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d	Charcot-Marie-Tooth Disease Type 1d CMT1D Hmsn Id Hmsn1d Charcot-Marie-Tooth Disease, Type 1d Hereditary Motor And Sensory Neuropathy 1d Charcot-Marie-Tooth Neuropathy Type 1d Charcot-Marie-Tooth Neuropathy, Type 1d Charcot-Marie-Tooth Disease 1d Charcot-Marie-Tooth Disease Demyelinating Type 1d Hereditary Motor And Sensory Neuropathy Id Charcot-Marie-Tooth Disease, Type Id
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	CMTX1 Cmtx Charcot-Marie-Tooth Disease X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 X-Linked Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked Cmt1x X-Linked Charcot-Marie-Tooth Disease Type 1 X-Linked Hereditary Motor And Sensory Neuropathy Hereditary Motor And Sensory Neuropathy, X-Linked Hmsn, X-Linked Charcot-Marie-Tooth Neuropathy, X-Linked, 1 Cmt2, Formerly Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy X-Linked 1 Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked Hereditary Motor And Sensory Neuropathy X-Linked Hmsn X-Linked Charcot-Marie-Tooth, X-Linked Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 Charcot-Marie-Tooth Disease, X-Linked, 1
Mononeuritis Of Lower Limb
Nephrotic Syndrome, Type 10	NPHS10 Nephrotic Syndrome Type 10 Idiopathic Steroid-Sensitive Nephrotic Syndrome Nephrotic Syndrome 10
Charcot-Marie-Tooth Disease Type 1g	Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1 Pmp2-Related Cmt1 Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1 Cmt1g
Chronic Polyneuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f	Charcot-Marie-Tooth Disease Type 1f CMT1F Charcot-Marie-Tooth Disease, Type 1f Charcot-Marie-Tooth Neuropathy Type 1f Charcot-Marie-Tooth Neuropathy, Type 1f Charcot-Marie-Tooth Disease Type 2b5 Ar-Cmt2b5 Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5 Seoan Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency Charcot-Marie-Tooth Disease 1f Charcot-Marie-Tooth Disease Demyelinating Type 1f Charcot-Marie-Tooth Disease, Type If
Charcot-Marie-Tooth Disease Type X
Peroneal Neuropathy	Peroneal Neuropathies
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Brachial Plexus Lesion	Brachial Plexus Injuries Brachial Plexus Lesions
Radial Neuropathy
Myotonia
Malignant Peripheral Nerve Sheath Tumor	Mpnst Malignant Neurilemmoma Neurofibrosarcoma Malignant Neurofibroma Malignant Schwannoma Neurogenic Sarcoma Schwannoma, Malignant Malignant Neoplasm Of The Peripheral Nerve Sheath Malignant Peripheral Nerve Sheath Tumors
Smith-Magenis Syndrome	SMS Chromosome 17p11.2 Deletion Syndrome 17p11.2 Microdeletion Syndrome 17p11.2 Monosomy Chromosome 17p Deletion Syndrome Del(17) P11.2 17p- Syndrome Deletion 17p Syndrome Partial Monosomy 17p
Sciatic Neuropathy
Amyotrophic Neuralgia	Neuralgic Amyotrophy Brachial Plexus Neuritis Neuralgic Shoulder Amyotrophy Acute Brachial Plexus Neuritis Immune Brachial Plexus Neuropathy Mononeuritis Multiplex With Brachial Predilection Parsonage-Turner Syndrome
Lesion Of Sciatic Nerve	Nerve Lesion Sciatic Sciatic Neuropathy
Mononeuritis Of Upper Limb And Mononeuritis Multiplex
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Syndromic X-Linked Intellectual Disability Type 10	Hsd10 Deficiency, Atypical Type Hsd10 Disease, Atypical Type X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome Mrxs10 Mental Retardation, X-Linked, Syndromic 10
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Pcwh Syndrome PCWH Neurologic Waardenburg-Shah Syndrome Waardenburg-Shah Syndrome, Neurologic Variant Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease Ws4 Plus Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease Waardenburg-Shah Syndrome Neurologic Variant
Cauda Equina Syndrome	Cauda Equina Polyradiculopathy
Charcot-Marie-Tooth Disease, Type 4b3	Charcot-Marie-Tooth Disease Type 4b3 CMT4B3 Charcot-Marie-Tooth Disease With Focally Folded Myelin Charcot-Marie-Tooth Disease 4b3 Charcot-Marie-Tooth Neuropathy Type 4b3
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Complex Cortical Dysplasia With Other Brain Malformations 6 CDCBM6 Cdcbm56 Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6
Neurilemmoma	Schwannoma Benign Schwannoma Neurilemoma Peripheral Fibroblastoma Psammomatous Schwannoma Neurolemmoma Schwannomas
Potocki-Lupski Syndrome	PTLS Chromosome 17p11.2 Duplication Syndrome 17p11.2 Microduplication Syndrome Duplication 17p11.2 Syndrome Trisomy 17p11.2 Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2)) 17p11.2 Duplication Syndrome Dup(17)(P11.2p11.2) Pls Chromosome 17, Trisomy 17p11 2
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
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
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-179114	VU0519975		/	Unkown
HY-RS10769	PMP22 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11482	PXMP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22756	Pxmp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PMP22	VGNC	VGNC:76194
Bos taurus	PMP22	VGNC	VGNC:33074
Rattus norvegicus	PMP22	RGD	RGD:3359
Mus musculus	PMP22	MGD	MGI:97631
Felis catus	PMP22	VGNC	VGNC:99321
Canis familiaris	PMP22	VGNC	VGNC:44735
Others	PMP22	NCBI