PLP1 Gene - GeneCards | MYPR Protein | MYPR Antibody
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 …
Proteolipid protein 1 - Wikipedia
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 …
PLP1 Disorders - GeneReviews® - NCBI Bookshelf
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 …
PLP1 gene - MedlinePlus
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.
PLP1 proteolipid protein 1 [Homo sapiens (human)] - Gene
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, …
5354 - Gene ResultPLP1 proteolipid protein 1 [ (human)]
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 …
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1 …
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 …
Entry - *300401 - PROTEOLIPID PROTEIN 1; PLP1 - OMIM
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 …
Mutation of Proteolipid Protein 1 Gene: From Severe …
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 …
Identity and lineage fate of proteolipid protein 1 gene (Plp1 ...
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 …