2024年12月25日 · PLP1 (Proteolipid Protein 1) is a Protein Coding gene. Diseases associated with PLP1 include Pelizaeus-Merzbacher Disease and Spastic Paraplegia 2, X-Linked. Among its related pathways are Oligodendrocyte specification and differentiation, leading to myelin components for CNS and Glial cell differentiation.

Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP). Mutations in PLP1 are associated with Pelizaeus–Merzbacher disease. It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane.

1999年6月15日 · PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened.

The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of that protein called DM20. Learn about this gene and related health conditions.

2025年2月8日 · 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.

Gene ID: 5354, updated on 8-Feb-2025. 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.

The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP). PLP1 mutations range from ...

HGNC Approved Gene Symbol: PLP1. Cytogenetic location: Xq22.2 Genomic coordinates (GRCh38) : X:103,776,506-103,792,619 (from NCBI) Proteolipid protein, or lipophilin, is the primary constituent of myelin in the central nervous system (CNS) (Diehl et al., 1986).

The Proteolipid Protein 1 (PLP1) gene encodes a transmembrane proteolipid protein. PLP1 is the major protein of myelin, and it plays a key role in the compaction, stabilization, and maintenance of myelin sheaths. Its function is predominant in oligodendrocyte development and …

The gene coding PLP, proteolipid protein 1 (Plp1) is highly expressed in oligodendrocytes, the myelin-forming cells in the CNS. Previous studies demonstrate that Plp1 gene is expressed in the embryonic CNS much earlier before the generation of oligodendrocytes. However, the progenitor identity and the fate of Plp1-expressing cells are still ...