• Gene id: 4359

Gene Summary

• Gene Symbol: MPZ   Gene   UCSC   Ensembl
• Aliases: CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0
• Gene name: myelin protein zero
• Alternate names: myelin protein P0, Charcot-Marie-Tooth neuropathy 1B, myelin peripheral protein,
• Gene location: 1q23.3 (73737405: 73729836)     Exons: 8     NC_000002.12
• Gene summary(Entrez): This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extr
• OMIM: 159440

Protein Summary

• Protein general information: P25189  
  • Name: Myelin protein P0 (Myelin peripheral protein) (MPP) (Myelin protein zero)
  • Length: 248  
  • Mass: 27555
  • Tissue specificity: Found only in peripheral nervous system Schwann cells.
• Sequence:

  MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSDDISFTWRYQPEGGRD
  AISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTSQVTLYVFEKV
  PTRYGVVLGAVIGGVLGVVLLLLLLFYVVRYCWLRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPVLYAMLDH
  SRSTKAVSEKKAKGLGESRKDKK

• Structural information:
  • Protein Domains: (30..14-)
    (/note="Ig-like-V-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR013106   IPR019566  IPR000920  IPR019738  IPR029869  
  • Prosite: PS50835 PS00568
  • PDB: 1N2P 3OAI
  • PDBsum: 1N2P 3OAI
  • STRING: ENSP00000432943
• Other Databases: GeneCards:  MPZ  Malacards:  MPZ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0042552	myelination	IMP	biological process
GO:0098742	cell-cell adhesion via plasma-membrane adhesion molecules	IMP	biological process
GO:0098743	cell aggregation	IMP	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005198	structural molecule activity	NAS	molecular function
GO:0005886	plasma membrane	NAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0043209	myelin sheath	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Dejerine-Sottas disease	KEGG:H02359
Congenital hypomyelinating neuropathy	KEGG:H02357
Roussy-Levy syndrome	KEGG:H01155
Charcot-Marie-Tooth disease	KEGG:H00264
Dejerine-Sottas disease	KEGG:H02359
Congenital hypomyelinating neuropathy	KEGG:H02357
Roussy-Levy syndrome	KEGG:H01155
Charcot-Marie-Tooth disease	PMID:11080237
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)