1. Gene
  2. PRX - periaxin Gene

PRX - periaxin Gene

Homo sapiens

Also known as CMT4F

Gene ID: 57716 | Gene type: protein coding

About PRX

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,393,764-40,414,789 (from NCBI)

This gene has 30 transcripts (splice variants), 158 orthologues, 2 paralogues and is associated with 4 phenotypes. Broad expression in lung (RPKM 13.6), ovary (RPKM 2.9) and 16 other tissues.

Summary

This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]

PRX Products(3)

mRNA Protein Name
NM_001411127.1 NP_001398056.1 periaxin isoform 3
NM_020956.2 NP_066007.1 periaxin isoform 1
NM_181882.3 NP_870998.2 periaxin isoform 2
Protein Preferred Names Protein Names

periaxin

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease Type 4f

CMT4F

Charcot-Marie-Tooth Disease, Type 4f

Charcot-Marie-Tooth Disease 4f

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f

Charcot-Marie-Tooth Neuropathy Type 4f

Dejerine-Sottas Disease

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

Spinocerebellar Ataxia 46

SCA46

Spinocerebellar Ataxia, 46, Autosomal Dominant, With Sensory Axonal Neuropathy

Spinocerebellar Ataxia Type 46

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

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

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Polyneuropathy

Polyneuropathies

Hereditary Neuropathies

Hereditary Neuropathy

Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

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, Type 4a

Charcot-Marie-Tooth Disease Type 4a

CMT4A

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a

Charcot-Marie-Tooth Neuropathy, Type 4a

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a

Charcot-Marie-Tooth Neuropathy Type 4a

Charcot-Marie-Tooth Disease 4a

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a

Charcot-Marie-Tooth Disease Neuropathy Type 4a

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

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

Charcot-Marie-Tooth Disease, Axonal, Type 2j

CMT2J

Charcot-Marie-Tooth Disease, Type 2j

Charcot-Marie-Tooth Disease Type 2j

Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities

Charcot-Marie-Tooth Neuropathy Type 2j

Charcot-Marie-Tooth Neuropathy, Type 2j

Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j

Charcot-Marie-Tooth Disease 2j

Charcot-Marie-Tooth Disease Axonal Type 2j

Charcot-Marie-Tooth Disease Neuronal Type 2j

Charcot-Marie-Tooth Disease Dominant Intermediate A

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A

Cmtdia

Charcot-Marie-Tooth Neuropathy Dominant Intermediate A

Di-Cmta

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type A

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

Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2

CMT4B2

Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

Charcot-Marie-Tooth Neuropathy, Type 4b2

Charcot-Marie-Tooth Neuropathy Type 4b2

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

Cmt 4b2

Charcot Marie Tooth Disease Type 4b2

Charcot-Marie-Tooth Disease 4b2

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

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

Amyloidosis, Hereditary, Transthyretin-Related

Transthyretin Amyloidosis

Familial Amyloid Polyneuropathy

Ttr Amyloid Neuropathy

Transthyretin Amyloid Neuropathy

Transthyretin Amyloid Polyneuropathy

Fap

Familial Transthyretin Amyloidosis

Amyloidosis Transthyretin Related

Type I Familial Amyloid Polyneuropathy

Familial Amyloid Polyneuropathy Type I

Attrv122i Amyloidosis

Hereditary Amyloidosis, Transthyretin-Related

Amyloid Polyneuropathy, Familial

Attr Amyloidosis

Attrm Amyloidosis

Corino De Andrade'S Disease

Paramyloidosis

Transthyretin-Related Hereditary Amyloidosis

Ttr Amyloidosis

Hereditary Attr Amyloidosis

Portuguese Polyneuritic Amyloidosis

Portuguese Type Familial Amyloid Neuropathy

Swiss Type Amyloid Polyneuropathy

Type Ii Familial Amyloid Polyneuropathy

Attrv30m Amyloidosis

Attrv30m-Related Amyloidosis

Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type

Attr Cardiomyopathy

Attrv122i-Related Amyloidosis

Ttr-Related Amyloid Cardiomyopathy

Ttr-Related Cardiac Amyloidosis

Transthyretin Amyloid Cardiopathy

Transthyretin-Related Familial Amyloid Cardiomyopathy

Amyloidosis, Transthyretin-Related

AMYL-TTR

Amyloidosis I

Amyloidosis Ohio Type

Amyloidosis Type 7

Amyloidosis Vii

Amyloid Polyneuropathy

Attr

Familial Amyloid Polyneuropathy Type Ii

Hereditary Amyloidosis Transthyretin-Related

Leptomeningeal Amyloidosis

Meningocerebrovascular Amyloidosis

Oculoleptomeningeal Amyloidosis

Familial Amyloid Polyneuropathies

Amyloidosis, Leptomeningeal

Senile Cardiac Amyloidosis

Amyloid Neuropathies, Familial

Danish Type Familial Amyloid Cardiomyopathy

Familial Amyloid Neuropathy, Portuguese Type

Amyloid Polyneuropathy, Swiss Type

Hereditary Oculoleptomeningeal Amyloid Angiopathy

Amyloid Neuropathies

Charcot-Marie-Tooth Disease, Type 4b1

Charcot-Marie-Tooth Disease Type 4b1

CMT4B1

Cmt4b

Charcot-Marie-Tooth Neuropathy Type 4b1

Charcot-Marie-Tooth Disease Type 4b

Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1

Charcot-Marie-Tooth Neuropathy, Type 4b1

Charcot-Marie-Tooth Disease, Type 4b

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1

Charcot-Marie-Tooth Disease 4b1

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Charcot-Marie-Tooth Disease, Axonal, Type 2i

CMT2I

Charcot-Marie-Tooth Disease, Type 2i

Charcot-Marie-Tooth Disease Type 2i

Charcot-Marie-Tooth Neuropathy Type 2i

Charcot-Marie-Tooth Neuropathy, Type 2i

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i

Charcot-Marie-Tooth Disease 2i

Charcot-Marie-Tooth Disease Axonal Type 2i

Charcot-Marie-Tooth Disease Neuronal Type 2i

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

Charcot-Marie-Tooth Disease, Type 4h

Charcot-Marie-Tooth Disease Type 4h

CMT4H

Charcot-Marie-Tooth Neuropathy Type 4h

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h

Charcot-Marie-Tooth Neuropathy, Type 4h

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h

Charcot-Marie-Tooth Disease 4h

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h

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

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

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular 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

Orthologs Information

Species Symbol Source ID
Canis familiaris PRX VGNC VGNC:45079
Macaca mulatta PRX VGNC VGNC:76248
Bos taurus PRX VGNC VGNC:33430
Rattus norvegicus PRX RGD RGD:619960
Mus musculus PRX MGD MGI:108176
Others PRX NCBI