Mpz Gene Summary [Rat]
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 the orthologous gene in human are associated with myelinating neuropathies. 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]
Details
| Type | Protein Coding |
| Official Symbol | Mpz |
| Official Name | myelin protein zero [Source:RGD Symbol;Acc:3109] |
| Ensembl ID | ENSRNOG00000003171 |
| Bio databases IDs | |
| Aliases | myelin protein zero |
| Synonyms | CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, GLYCOPROTEIN P0, HMSNIB, MPP, myelin protein zero, P0, protein ZERO, P-zero |
| Species | Rat, Rattus norvegicus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in rat Mpz often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- cytoplasmic domain
- Immunoglobulin V-Type
- immunoglobulin domain
- Immunoglobulin like
- Myelin-PO cytoplasmic C-term p65 binding region
- protein binding
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- paralysis
- hereditary disorder
- bladder cancer
- Charcot-Marie-Tooth disease axonal type 2i
- Charcot-Marie-Tooth disease type 1
- Roussy-Lévy syndrome
- Charcot-Marie-Tooth disease, dominant intermediate type d
- Charcot-Marie-Tooth disease type 1B
- Charcot-Marie-Tooth disease
role in cell
- expression in
- cell death
- apoptosis
- differentiation
- activation
- adhesion
- aggregation
- degeneration
- outgrowth
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- myelin enriched fraction
- nuclear fraction
- membrane fraction
- cell surface
- cellular membrane
- Golgi Apparatus
- membrane compartment
- basolateral membrane
- myelin sheath
- detergent insoluble microdomains
- axons
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Mpz gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic transmission
- myelination
Cellular Component
Where in the cell the gene product is active
- myelin sheath
- synapse
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- structural molecule activity