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
a6b1 and a6b4 Integrin signaling
[NCBI:138008]
[Pathway Interaction Database:a6b1_a6b4_integrin_pathway]
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