Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= MPZ ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: MPZ * **<color #00a2e8>Official Name</color>**: myelin protein zero * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4359|4359]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P25189|P25189]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MPZ&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MPZ|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/159440|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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 extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]. * **<color #00a2e8>UniProt Summary</color>**: Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction. {ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:18337304}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |V-set| |Myelin-PO C| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |cell aggregation| |myelin sheath| |rough endoplasmic reticulum| |myelination| |axon ensheathment| |ensheathment of neurons| |structural molecule activity| |basolateral plasma membrane| |lysosome| |cell-cell adhesion via plasma-membrane adhesion molecules| |chemical synaptic transmission| |anterograde trans-synaptic signaling| |trans-synaptic signaling| |synaptic signaling| |cell-cell adhesion| |negative regulation of apoptotic process| |negative regulation of programmed cell death| |cell adhesion| |biological adhesion| |negative regulation of cell death| |cell-cell signaling| |integral component of plasma membrane| |regulation of apoptotic process| |regulation of programmed cell death| |regulation of cell death| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 6137 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.55 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='MPZ Expression in NALM6 Cells: 0.55'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1