full name
peripheral myelin protein 22

synonyms
CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110, PMP22, ENSG00000109099

HGNC
HGNC:9118

Entrez Gene
Gene:5376

ENSEMBL
ENSG00000109099

location
chr: 17
start: 15133094
stop: 15168674
strand: -

OMIM
OMIM:601097: PMP22
OMIM:139393: ?Neuropathy, inflammatory demyelinating
OMIM:118220: Charcot-Marie-Tooth disease, type 1A
OMIM:118300: Charcot-Marie-Tooth disease, type 1E
OMIM:145900: Dejerine-Sottas disease
OMIM:162500: Neuropathy, recurrent, with pressure palsies
OMIM:180800: Roussy-Levy syndrome

transcripts
NR_104018.1
NR_104017.1
NM_001281456.1
NM_000304.3
NM_153321.2
NM_001281455.1
NM_153322.2

pathways
Neural Crest Differentiation [NCBI:672460] [WikiPathways:WP2064] [PUBMED:14973296] [PUBMED:21108791] [PUBMED:16845469] [PUBMED:21784065] [PUBMED:15944192] [PUBMED:16402914] [PUBMED:19575671] [PUBMED:20083100]
a6b1 and a6b4 Integrin signaling [NCBI:138008] [Pathway Interaction Database:a6b1_a6b4_integrin_pathway] [PUBMED:8698818] [PUBMED:16436605] [PUBMED:7556090] [PUBMED:8738575] [PUBMED:16510594] [PUBMED:16339173] [PUBMED:1959558] [PUBMED:9428518] [PUBMED:17308105] [PUBMED:12919677] [PUBMED:12865436] [PUBMED:11044453] [PUBMED:8609714] [PUBMED:10321801] [PUBMED:8143784] [PUBMED:9856810] [PUBMED:1883873] [PUBMED:9488728] [PUBMED:16504015] [PUBMED:1757471] [PUBMED:10477766] [PUBMED:1533398] [PUBMED:10694273] [PUBMED:17178732] [PUBMED:11733063] [PUBMED:15579904] [PUBMED:11098055] [PUBMED:12584562]