Tbio MPZ Myelin protein P0

Protein Summary

Description

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. 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]

Uniprot Accession IDs

• P25189
• Q16072
• Q5VTH4
• Q92677
• Q9BR67

Gene Name

• MPZ

Ensembl ID

• ENST00000463290
• ENSP00000431538
• ENSG00000158887
• ENST00000533357
• ENSP00000432943

Symbol

• P0
• CHM
• DSS
• MPP
• CHN2
• CMT1
• CMT1B
• CMT2I
• CMT2J
• CMT4E
• CMTDI3
• CMTDID
• HMSNIB

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.92
gene perturbation	0.74
phenotype	0.69
cell type or tissue	0.62
biological term	0.6

Protein Classes

PANTHER Classes

Protein / Transporter / Ion Channel / Voltage-gated Ion Channel / Voltage-gated Sodium Channel / Myelin Protein P0

Protein / Transporter / Ion Channel / Sodium Channel / Voltage-gated Sodium Channel / Myelin Protein P0

Protein / Cell Adhesion Molecule / Myelin Protein P0

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 530.32   (req: < 5)

Gene RIFs: 94   (req: <= 3)

Antibodies: 365   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 530.32   (req: >= 5)

Gene RIFs: 94   (req: > 3)

Antibodies: 365   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0