DAVID Gene Report
38220
peripheral myelin protein Related Genes Mus musculus
SP_COMMENT
developmental stage:Specifically expressed at growth arrest of mammalian cells.,
disease: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.,
function:Might be involved in growth regulation, and in myelinization in the peripheral nervous system.,
similarity:Belongs to the PMP-22/EMP/MP20 family.,
subcellular location:Membrane; Multi-pass membrane protein.,
tissue specificity:Schwann cells of the peripheral nervous system.,
REFSEQ_PROTEIN
NP_032911 ,
REFSEQ_MRNA
NM_008885 ,
GENPEPT_ACCESSION
AAA37661 ,
AAH10765 ,
BAC36113 ,
BAE42647 ,
CAA86226 ,
CAI24244 ,
EDL10381 ,
EDL10382 ,
EDL10383 ,
EDL10384 ,
Genomic_DNA ,
mRNA ,
GENE_SYMBOL
pmp22 ,
GENE_NAME
10 days embryo whole body cDNA, RIKEN full-length enriched library, clone:2610025G16 product:peripheral myelin protein, 22 kDa, full insert sequence,
Activated spleen cDNA, RIKEN full-length enriched library, clone:F830008I05 product:peripheral myelin protein, full insert sequence,
GAS-3,
Growth arrest-specific protein 3,
PMP-22,
Peripheral myelin protein,
Peripheral myelin protein (Activated spleen cDNA, RIKEN full-length enriched library, clone: F830008I05 product: peripheral myelin protein, full insert sequence) (10 days embryo whole body cDNA, RIKEN full- length enriched library, clone: 2610025G16 product: peripheral myelin protein, 22 kDa, full insert sequence),
Peripheral myelin protein 22 (PMP-22) (Growth arrest-specific protein 3) (GAS-3),
peripheral myelin protein 22,
GENERIF_SUMMARY
Part of the PMP22 gene contains the necessary information to mirror the endogenous expression pattern in peripheral nerves during development and regeneration and in mouse models of demyelination due to genetic lesions. ,
Association of calnexin ex vivo ,
Aggresome formation has now been observed with two mutant PMP22s, the Tr- and TrJ-PMP22 when the proteasome is inhibited. two pathways of PMP22 degradation are present. ,
Mutant pmp22 from less severely affected mutants occurs in large aggregates, while that from more severely affected mutants occurs in a diffuse perinuclear pattern. Pmp22 aggregates may be protective in this form of peripheral neuropathy. ,
Multiple distinct signaling pathways regulating Pmp22 expression in myelination as well as in neurons converge on distinct segments of the PMP22 promoter region. ,
Recessive mutations were uniquely distinguished from dominant mutations by both the low potential for aggregation and their trafficking to the cell surface. ,
Increased expression of genes involved in cell cycle regulation and DNA replication is characteristic and specific for early development in Pmp22-deficient mice, supporting a primary function of PMP22 in the regulation of Schwann cell proliferation. ,
PMP22 is a binding partner in the integrin alpha6beta4/laminin complex and is involved in mediating the interaction of Schwann cells with the extracellular environment. ,
The beneficial effects of autophagy and chaperones in preventing the accumulation of misfolded PMP22 are additive and provide a potential avenue for therapeutic approaches in hereditary neuropathies linked to PMP22 mutations. ,
CHROMOSOME
11,
ENTREZ_GENE_ID
18858 ,
PIR_SUMMARY
Might be involved in growth regulation, and in myelinization in the peripheral nervous system.,
UNIGENE
Mm.1237 ,
PIR_NREF_ID
NF00516050,
NF00526690,
UNIREF100_ID
UniRef100_P16646 ,
UNIPROT_ID
PMP22_MOUSE ,
Q5SXS3_MOUSE ,
CYTOBAND
11 34.45 cM,
11 B3,
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