Myelin protein zero

MPZ
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3OAI
Identifiers
Aliases	MPZ, CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0, myelin protein zero, CHN2
External IDs	OMIM: 159440; MGI: 103177; HomoloGene: 445; GeneCards: MPZ; OMA:MPZ - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	161,309,968 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	170,988,699 bp
RNA expression pattern
	Top expressed in
	tibial nerve; ; sural nerve; ; olfactory bulb; ; trigeminal ganglion; ; spinal ganglia; ; muscle layer of sigmoid colon; ; left coronary artery; ; right auricle; ; testicle; ; seminal vesicula;
	Top expressed in
	somatic nerve plexus; ; lumbosacral plexus; ; sciatic nerve; ; utricle; ; ankle; ; lip; ; brachial plexus; ; vestibular sensory epithelium; ; esophagus; ; external carotid artery;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	structural molecule activity;
Cellular component	integral component of membrane; myelin sheath; rough endoplasmic reticulum; lysosome; basolateral plasma membrane; integral component of plasma membrane; membrane; plasma membrane;
Biological process	negative regulation of apoptotic process; chemical synaptic transmission; myelination; cell-cell adhesion via plasma-membrane adhesion molecules; cell aggregation;
	Sources:Amigo / QuickGO
Orthologs
	4359
	17528
	ENSG00000158887
	ENSMUSG00000056569
	P25189
	P27573
	NM_000530; NM_001315491
	NM_008623; NM_001315499; NM_001315500
	NP_000521; NP_001302420
	NP_001302428; NP_001302429; NP_032649
	Wikidata
View/Edit Human	View/Edit Mouse

Myelin protein zero (P0, MPZ) is a single membrane glycoprotein^[5] which in humans is encoded by the MPZ gene. P0 is a major structural component of the myelin sheath in the peripheral nervous system (PNS).^[6] Myelin protein zero is expressed by Schwann cells and accounts for over 50% of all proteins in the peripheral nervous system, making it the most common protein expressed in the PNS.^[6] Mutations in myelin protein zero can cause myelin deficiency and are associated with neuropathies like Charcot–Marie–Tooth disease and Dejerine–Sottas disease.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000158887 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000056569 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Magnaghi V, Cavarretta I, Galbiati M, Martini L, Melcangi RC (November 2001). "Neuroactive steroids and peripheral myelin proteins". Brain Research. Brain Research Reviews. 37 (1–3): 360–71. doi:10.1016/s0165-0173(01)00140-0. PMID 11744100. S2CID 8004545.
^ ^a ^b Shy ME (March 2006). "Peripheral neuropathies caused by mutations in the myelin protein zero". Journal of the Neurological Sciences. 242 (1–2): 55–66. doi:10.1016/j.jns.2005.11.015. PMID 16414078. S2CID 32802793.
^ Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, et al. (February 2004). "Phenotypic clustering in MPZ mutations". Brain. 127 (Pt 2): 371–84. doi:10.1093/brain/awh048. PMID 14711881.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000158887 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000056569 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Magnaghi V, Cavarretta I, Galbiati M, Martini L, Melcangi RC (November 2001). "Neuroactive steroids and peripheral myelin proteins". Brain Research. Brain Research Reviews. 37 (1–3): 360–71. doi:10.1016/s0165-0173(01)00140-0. PMID 11744100. S2CID 8004545.

[Shy_2006-6] Shy ME (March 2006). "Peripheral neuropathies caused by mutations in the myelin protein zero". Journal of the Neurological Sciences. 242 (1–2): 55–66. doi:10.1016/j.jns.2005.11.015. PMID 16414078. S2CID 32802793.

[Shy_2004-7] Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, et al. (February 2004). "Phenotypic clustering in MPZ mutations". Brain. 127 (Pt 2): 371–84. doi:10.1093/brain/awh048. PMID 14711881.

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