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 ZFIN BLAST
mRNA	pmp22a-202 (1) Ensembl	Ensembl	1,183 nt	Select Tool ZFIN BLAST
mRNA	pmp22a-203 (1) Ensembl	Ensembl	1,003 nt	Select Tool ZFIN BLAST

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