All download files including the archive files are now in a publicly accessible Google Storage Bucket. Downloads page links have been updated.

Not found

Our G-nome assistant hasn't been able to find this symbol report. Please check the URL or use our search to find what you are looking for.

Symbol report for PMP22

Stable symbol

HGNC data for PMP22

Approved symbol
PMP22
Approved name

peripheral myelin protein 22

Locus type
gene with protein product
HGNC ID
HGNC:9118
Symbol status
Approved
Previous symbols
CMT1A
Previous names
Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia)
Alias symbols
HNPP
GAS3
Sp110
HMSNIA
Chromosomal location
17p12
Gene groups
Gene resources for PMP22
Ensembl
ENSG00000109099 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
5376 Curated
UCSC
uc002gol.5
Alliance of Genome Resources
HGNC:9118
Nucleotide resources for PMP22
MANE Select
NM_000304.4
ENST00000312280.9
INSDC
D11428 Curated
ENAGenBankDDBJ
RefSeq
NM_000304 Curated
NCBI sequence viewer
CCDS
CCDS11168 Curated
CCDS82078 Curated
Protein resources for PMP22
UniProt/Swiss-Prot
Q01453
InterProPDBeReactome
AlphaFold
AF-Q01453-F1
Orthologs from selected species for PMP22
Bos taurus
PMP22 VGNC:33074 VGNC
Canis familiaris
PMP22 VGNC:44735 VGNC
Equus caballus
PMP22 VGNC:21615 VGNC
Felis catus
PMP22 VGNC:99321 VGNC
Macaca mulatta
PMP22 VGNC:76194 VGNC
Mus musculus
Pmp22 MGI:97631 Curated
Pan troglodytes
PMP22 VGNC:9530 VGNC
Rattus norvegicus
Pmp22 RGD:3359
Sus scrofa
PMP22 VGNC:91590 VGNC
Clinical resources for PMP22
OMIM
601097
LRG
LRG_263 Curated
LSDB
Inherited Peripheral Neuropathies Mutation Database Curated
GenCC
HGNC:9118
MedlinePlus
Search via PMP22
DECIPHER
Search via PMP22
ClinGen
Search via HGNC:9118
Genetic Testing Registry
Search via NCBI Gene ID 5376
ClinVar
Search via NCBI Gene ID 5376
dbVar
Search via NCBI Gene ID 5376
Orphanet
117908
Other resources for PMP22
AmiGO
Search via Q01453
QuickGO
Search via Q01453
BioGPS
Search via NCBI Gene ID 5376
GeneCards
Search via HGNC:9118
Monarch
Search via HGNC:9118
WikiGenes
Search via NCBI Gene ID 5376
References for PMP22