Homo sapiens Gene: MPZ
Summary
InnateDB Gene IDBG-104264.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MPZ
Gene Name myelin protein zero
Synonyms CHM; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; DSS; HMSNIB; MPP; P0
Species Homo sapiens
Ensembl Gene ENSG00000158887
Encoded Proteins
myelin protein zero
myelin protein zero
myelin protein zero
myelin protein zero
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. [provided by RefSeq, Apr 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:161304735-161309972
Strand Reverse strand
Band q23.3
Transcripts
ENST00000336559 ENSP00000337777
ENST00000463290 ENSP00000431538
ENST00000476410
ENST00000491222 ENSP00000431441
ENST00000488271
ENST00000533357 ENSP00000432943
ENST00000526189
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
Biological Process
GO:0007268 synaptic transmission
GO:0008219 cell death
GO:0045217 cell-cell junction maintenance
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016021 integral component of membrane
GO:0043209 myelin sheath
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Cell adhesion molecules (CAMs) pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.591486 Hs.93883
RefSeq NM_000530
HUGO
OMIM
CCDS CCDS1229
HPRD 01159
IMGT
EMBL
GenPept
RNA Seq Atlas