Early Detection Research Network

MPZ

Aliases:
This biomarker is also known as:
  • myelin protein P0,
  • myelin peripheral protein,
  • MPP,
  • CMT1,
  • DSS,
  • CMT2I,
  • CMT4E,
  • CMTDID,
  • HMSNIB,
  • CMT1B,
  • P0,
  • myelin protein zero,
  • CMTDI3,
  • CMT2J,
  • Charcot-Marie-Tooth neuropathy 1B,
  • Myelin protein zero,
  • Myelin peripheral protein,
  • MPZ,
  • CHM,

Description…

From NCBI Gene: 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]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Gene
HGNC Name: MPZ

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

Version 5.0.2