ZFIN ID: ZDB-GENE-030131-6757
Gene Name: peripheral myelin protein 22a
Gene Symbol: pmp22a    Nomenclature History

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Previous Names: pmp22, wu:fa04d03, wu:fa08d03

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 3 Mapping Details/Browsers
Description: Predicted to localize to plasma membrane. Is expressed in head mesenchyme; myotome; pectoral fin; pharyngeal arch; and somite. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Orthologous to human PMP22 (peripheral myelin protein 22).
Genome Resources: Alliance (1),  Gene:334817 (1),  Ensembl(GRCz11):ENSDARG00000105223 (1)
GENE EXPRESSION
All Expression Data: 7 figures from 2 publications
Directly Submitted Expression Data: 6 figures (14 images) from Thisse et al., 2004 [MGC:77801]
Wild-type Stages, Structures: Segmentation:5-9 somites (11.66h-14.0h) to Hatching:Long-pec (48.0h-60.0h)
 
High Throughput Expression: GEO (1) Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS No data available
PHENOTYPE No data available
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
DISEASE ASSOCIATED WITH pmp22a VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Cellular Component integral component of membrane (more)
GO Terms (all 3)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA pmp22a-201 (1)    Ensembl 566
pmp22a-202 (1)    Ensembl 1183
pmp22a-203 (1)    Ensembl 1003
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM pmp22a No data available
MARKER RELATIONSHIPS
pmp22a Contained in: [BAC] DKEY-67K15 (1) (order this)
pmp22a Encodes: [EST] fa04d03, fa08d03 (1)
[cDNA] MGC:77801 (1), MGC:174475 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_201311 (1) 1209 nt
Genomic GenBank:CR848051 (1) 131370 nt
Select Tool
Polypeptide UniProtKB:Q6P608 (1) 157 aa
Sequence Information (all 20)
ORTHOLOGY for pmp22a ( Chr: 3 )
CITATIONS (22)