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]
