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peripheral myelin protein 22; PMP-22; growth arrest-specific protein 3; GAS-3 (PMP22, GAS3)

Function: - might be involved in growth regulation, & in myelinization in the peripheral nervous system Structure: belongs to the PMP-22/EMP/MP20 family Compartment: membrane, myelin Pathology: - defects in PMP22 are the cause of a) Charcot-Marie-Tooth disease type 1A b) Dejerine-Sottas syndrome c) tomaculous neuropathy d) Charcot-Marie-Tooth disease type 1E e) inflammatory demyelinating polyneuropathy

Related

pmp22 gene

General

glycoprotein myelin protein phosphoprotein

Properties

SIZE: entity length = 160 aa MW = 18 kD COMPARTMENT: myelin CELL-REGION: myelin sheath CELL: oligodendrocyte WITHIN: central nervous system MOTIF: transmembrane domain {2-31} N-glycosylation site {N41} transmembrane domain {65-91} transmembrane domain {96-119} transmembrane domain {134-156}

Database Correlations

OMIM correlations MORBIDMAP 601097 UniProt Q01453 Pfam PF00822 Entrez Gene 5376 Kegg hsa:5376

References

  1. UniProt :accession Q01453
  2. Inherited peripheral neuropathies mutation db http://www.molgen.ua.ac.be/CMTmutations/
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=PMP22
  4. Schachner M, Martini R. Glycans and the modulation of neural-recognition molecule function. Trends Neurosci. 1995 Apr;18(4):183-91. Review. PMID: 7539963