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 | 118220 | ||
Charcot-Marie-Tooth disease, type 1E | 118300 | ||
Dejerine-Sottas disease | 145900 | ||
Neuropathy, recurrent, with pressure palsies | 162500 | ||
Roussy-Levy syndrome | 180800 | ||
?Neuropathy, inflammatory demyelinating | 139393 |
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 | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
pmp22b-201
(1)
|
Havana | 3161 nt | |
mRNA |
pmp22b-202
(1)
|
Havana | 682 nt |
Interactions and Pathways
No data available
Plasmids
No data available