Proteolipid protein 1

From Wikipedia, the free encyclopedia
  (Redirected from Proteolipid protein)
Jump to navigation Jump to search
Protein PLP1 PDB 2XPG.png
Available structures
PDBOrtholog search: PDBe RCSB
AliasesPLP1, GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2, proteolipid protein 1
External IDsOMIM: 300401 MGI: 97623 HomoloGene: 448 GeneCards: PLP1
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for PLP1
Genomic location for PLP1
BandXq22.2Start103,773,718 bp[1]
End103,792,619 bp[1]
RNA expression pattern
PBB GE PLP1 210198 s at fs.png
More reference expression data
RefSeq (mRNA)


RefSeq (protein)


Location (UCSC)Chr X: 103.77 – 103.79 MbChr X: 136.82 – 136.84 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

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. In a myelin sheath, as the layers of myelin wraps come together, PLP will bind itself and tightly hold the cellular membranes together.

This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system (CNS). The encoded protein functions in myelination. This protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations associated with this gene cause X-linked Pelizaeus–Merzbacher disease and spastic paraplegia type 2. Two transcript variants encoding distinct isoforms have been identified for this gene.[5]

In melanocytic cells PLP1 gene expression may be regulated by MITF.[6]


Proteolipid protein 1 has been shown to interact with Myelin basic protein.[7][8]

See also[edit]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000123560 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031425 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ "Entrez Gene: PLP1 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)".
  6. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  7. ^ Wood, D D; Vella G J; Moscarello M A (Oct 1984). "Interaction between human myelin basic protein and lipophilin". Neurochem. Res. UNITED STATES. 9 (10): 1523–31. doi:10.1007/BF00964678. ISSN 0364-3190. PMID 6083474.
  8. ^ Edwards, A M; Ross N W; Ulmer J B; Braun P E (Jan 1989). "Interaction of myelin basic protein and proteolipid protein". J. Neurosci. Res. UNITED STATES. 22 (1): 97–102. doi:10.1002/jnr.490220113. ISSN 0360-4012. PMID 2467009.

Further reading[edit]

External links[edit]