2. Gene
  3. PRPH - peripherin Gene

PRPH - peripherin Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NEF4; PRPH1

Gene ID: 5630 | Gene type: protein coding

About PRPH

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,295,147-49,298,686 (from NCBI)

This gene has 6 transcripts (splice variants), 190 orthologues, 68 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 11.3), adrenal (RPKM 6.4) and 6 other tissues.

Summary

This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

PRPH Products(1)

mRNA Protein Name
NM_006262.4 NP_006253.2 peripherin

PRPH Protein Structure

Filament_head

Filament_head: Intermediate filament head (DNA binding) region (13 - 95)

Filament

Filament: Intermediate filament protein (96 - 406)

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  • 470 a.a.
Protein Preferred Names Protein Names

peripherin

neurofilament 4 (57kD)

Related Diseases

Diseases Alias
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2

FTDALS2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-2

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 2
Amyotrophic Lateral Sclerosis Type 22

Als 22

Amyotrohpic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 22
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3

FTDALS3

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-3

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 3
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4

FTDALS4

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-4

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 4
Amyotrophic Lateral Sclerosis 19

Amyotrophic Lateral Sclerosis Type 19

ALS19

Sclerosis, Lateral, Amyotrophic, Type 19
Amyotrophic Lateral Sclerosis 20

Amyotrophic Lateral Sclerosis Type 20

ALS20

Sclerosis, Lateral, Amyotrophic, Type 20
Amyotrophic Lateral Sclerosis 21

Amyotrophic Lateral Sclerosis Type 21

ALS21

Multisystem Proteinopathy 5

Msp5

Distal Myopathy With Vocal Cord Weakness

Vcpdm

Myopathy, Distal, 2, Formerly

Mpd2, Formerly

Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly

Vcpdm, Formerly

Vocal Cord And Pharyngeal Distal Myopathy

Matr3-Related Distal Myopathy

Distal Myopathy 2

Mpd2

Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy

Sclerosis, Lateral, Amyotrophic, Type 21

Myopathy, Distal 2
Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease
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
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
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11217 PRPH Human Pre-designed siRNA Set A / Unkown
HY-RS11218 PRPH2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus PRPH VGNC VGNC:33384
Macaca mulatta PRPH VGNC VGNC:100093
Felis catus PRPH VGNC VGNC:69082
Canis familiaris PRPH VGNC VGNC:45031
Rattus norvegicus PRPH RGD RGD:3414
Mus musculus PRPH MGD MGI:97774