PMP22 - peripheral myelin protein 22 Gene

Homo sapiens

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

Gene ID: 5376 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12107182	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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)

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10769	PMP22 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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