Early Detection Research Network

PLP1

Aliases:
This biomarker is also known as:
  • HLD1,
  • spastic paraplegia 2, uncomplicated,
  • MMPL,
  • PLP,
  • PLP1,
  • major myelin proteolipid protein,
  • SPG2,
  • proteolipid protein 1,
  • Lipophilin,
  • myelin proteolipid protein,
  • PLP/DM20,
  • PMD,
  • lipophilin,

Description…

From NCBI Gene: This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Gene
HGNC Name: PLP1

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