View PMP22 gene homepage

General information
Gene symbol PMP22
Gene name peripheral myelin protein 22
Chromosome 17
Chromosomal band p12
Imprinted Not imprinted
Genomic reference LRG_263
Transcript reference NM_000304.3, NM_001281455.1, NM_001281456.1, NM_153321.2, NM_153322.2, NR_104017.1, NR_104018.1, XM_011523943.1
Associated with diseases CMT2A1
Citation reference(s) -
Curators (3) Savvas Nikolaou, Carsten W Lederer and Anastasia Raoukka
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Date created June 16, 2016
Date last updated June 28, 2016
Version PMP22:160628

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 9118
Entrez Gene 5376
PubMed articles PMP22
OMIM - Gene 601097
OMIM - Diseases CMT2A1 (Charcot-Marie-Tooth (CMT) disease - demyelinating)
HGMD PMP22
GeneCards PMP22
GeneTests PMP22


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000256 17 transcript variant 1 NM_000304.3 NP_000295.1 1
00000257 17 transcript variant 2 NM_153321.2 NP_696996.1 0
00000258 17 transcript variant 3 NM_153322.2 NP_696997.1 0
00000259 17 transcript variant 4 NM_001281455.1 NP_001268384.1 0
00000260 17 transcript variant 5 NM_001281456.1 NP_001268385.1 0
00000261 17 transcript variant 6 NR_104017.1 - 0
00000262 17 transcript variant 7 NR_104018.1 - 0
00000263 17 transcript variant X1 XM_011523943.1 XP_011522245.1 0


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