Gene

pmp22a

ID

ZDB-GENE-030131-6757

Name

peripheral myelin protein 22a

Symbol

pmp22a Nomenclature History

Previous Names

pmp22
wu:fa04d03
wu:fa08d03

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Is expressed in head mesenchyme; myotome; pectoral fin; pharyngeal arch; and somite. Orthologous to human PMP22 (peripheral myelin protein 22).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:77801 (14 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pmp22a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Charcot-Marie-Tooth disease type 1A	Alliance	Charcot-Marie-Tooth disease, type 1A	118220
Charcot-Marie-Tooth disease type 1E	Alliance	Charcot-Marie-Tooth disease, type 1E	118300
Charcot-Marie-Tooth disease type 3	Alliance	Dejerine-Sottas disease	145900
Guillain-Barre syndrome	Alliance	?Neuropathy, inflammatory demyelinating	139393
hereditary neuropathy with liability to pressure palsies	Alliance	Neuropathy, recurrent, with pressure palsies	162500
		Roussy-Levy syndrome	180800

Associated With pmp22a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR004031	PMP-22/EMP/MP20/Claudin
Family	IPR004032	PMP-22/EMP/MP20

Domain Details Per Protein

Protein	Length	PMP-22/EMP/MP20	PMP-22/EMP/MP20/Claudin
UniProtKB:A0A8M2BBU0 InterPro	169
UniProtKB:Q6P608 InterPro	157

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pmp22a-201 (1) Ensembl	Ensembl	566 nt	Select Tool
mRNA	pmp22a-202 (1) Ensembl	Ensembl	1,183 nt	Select Tool
mRNA	pmp22a-203 (1) Ensembl	Ensembl	1,003 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations