peripheral myelin protein 22; PMP-22; growth arrest-specific protein 3; GAS-3 (PMP22, GAS3)
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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
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q01453.html
- ↑ Inherited peripheral neuropathies mutation db http://www.molgen.ua.ac.be/CMTmutations/
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=PMP22
- ↑ Schachner M, Martini R. Glycans and the modulation of neural-recognition molecule function. Trends Neurosci. 1995 Apr;18(4):183-91. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7539963
Database
- UniProt: http://www.uniprot.org/uniprot/Q01453.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5376
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5376
- OMIM: https://mirror.omim.org/entry/118220
- OMIM: https://mirror.omim.org/entry/118300
- OMIM: https://mirror.omim.org/entry/139393
- OMIM: https://mirror.omim.org/entry/145900
- OMIM: https://mirror.omim.org/entry/162500
- OMIM: https://mirror.omim.org/entry/601097