Pmp22
entrez
18858
canonical
uniprot
P16646
canonical
ensembl
ENSMUSG00000018217
resolver
ensp
ENSMUSP00000018361
resolver
ensp
ENSMUSP00000104340
resolver
ensp
ENSMUSP00000104341
resolver
ensp
ENSMUSP00000104342
resolver
ensp
ENSMUSP00000198716
resolver
ensp
ENSMUSP00000198723
resolver
ensp
ENSMUSP00000198725
resolver
ensp
ENSMUSP00000198729
resolver
ensp
ENSMUSP00000198730
resolver
ensp
ENSMUSP00000198732
resolver
enst
ENSMUST00000018361
resolver
enst
ENSMUST00000108700
resolver
enst
ENSMUST00000108701
resolver
enst
ENSMUST00000108702
resolver
genesymbol
Pmp22
resolver
genesymbol_syn
Gas-3
resolver
genesymbol_syn
Gas3
resolver
genesymbol_syn
Pmp-22
resolver
uniprot
Q542W8
resolver
uniprot
Q5SXS3
resolver
uniprot
Q91XF9
resolver
uniprot_entry
PMP22_MOUSE
resolver
uniprot_entry
Q542W8_MOUSE
resolver
uniprot_entry
Q5SXS3_MOUSE
resolver
uniprot_sec
Q91XF9
resolver
amino_acid_sequence
MLLLLLGILFLHIAVLVLLFVSTIVSQWLVGNGHTTDLWQNCTTSALGAVQHCYSSSVSEWLQSVQATMILSVIFSVLALFLFFCQLFTLTKGGRFYITGFFQILAGLCVMSAAAIYTVRHSEWHVNTDYSYGFAYILAWVAFPLALLSGIIYVILRKREL
uniprot
proteins
disease_involvement
DISEASE: Note=A defect in Pmp-22 is the cause of trembler (tr) phenotype. Trembler mice show a Schwann cells defect characterized by severe hypomyelination and continuing Schwann cells proliferation throughout life. {ECO:0000269|PubMed:1374899, ECO:0000269|PubMed:1552943}.
uniprot
proteins
function
FUNCTION: Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
uniprot
proteins
mass_dalton
18023
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the DCX(DCAF13) E3 ubiquitin ligase complex, leading to its degradation. {ECO:0000269|PubMed:35178836}.
uniprot
proteins
protein_family
PMP-22/EMP/MP20 family
uniprot
proteins
pubmed
1374899
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1552943
uniprot
proteins
pubmed
1692961
uniprot
proteins
pubmed
30773261
uniprot
proteins
pubmed
35178836
uniprot
proteins
sequence_length
161
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q01453}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q01453}.
uniprot
proteins
transmembrane_region
TRANSMEM 2..31; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 65..91; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 96..119; /note="Helical"; /evidence="ECO:0000250"; TRANSMEM 134..156; /note="Helical"; /evidence="ECO:0000250
uniprot
proteins