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
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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 IPR003936 Peripheral myelin protein PMP22
Family IPR004031 PMP-22/EMP/MP20/Claudin superfamily
Family IPR004032 PMP-22/EMP/MP20
Domain Details Per Protein
Protein Length Peripheral myelin protein PMP22 PMP-22/EMP/MP20 PMP-22/EMP/MP20/Claudin superfamily
UniProtKB:Q6P608 157
Transcripts
Genome Browsers
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