Gene
pmp22b
- ID
- ZDB-GENE-060421-4337
- Name
- peripheral myelin protein 22b
- Symbol
- pmp22b Nomenclature History
- Previous Names
-
- id:ibd2630
- wu:fb81f09
- zgc:136919
- Type
- protein_coding_gene
- Location
- Chr: 12 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 notochord; otic placode; otic vesicle; somite; and tail bud. Orthologous to human PMP22 (peripheral myelin protein 22).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | PMP-22/EMP/MP20 | PMP-22/EMP/MP20/Claudin |
|---|---|---|---|
|
UniProtKB:Q1RLQ8
|
155 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pmp22b-201
(1)
|
Ensembl | 3,161 nt | ||
| mRNA |
pmp22b-202
(1)
|
Ensembl | 682 nt |
Interactions and Pathways
No data available
Plasmids
No data available