CAG38779.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
30,077 Da
NCBI Official Full Name
PLP1
NCBI Official Synonym Full Names
proteolipid protein 1
NCBI Official Synonym Symbols
PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20 [Similar Products]
NCBI Protein Information
myelin proteolipid protein; lipophilin; major myelin proteolipid protein
UniProt Protein Name
Myelin proteolipid protein
UniProt Synonym Protein Names
Lipophilin
UniProt Synonym Gene Names
UniProt Entry Name
MYPR_HUMAN
NCBI Summary for PLP1
This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It 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 X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for PLP1
PLP1: This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin. Defects in PLP1 are the cause of leukodystrophy hypomyelinating type 1 (HLD1); also known as Pelizaeus-Merzbacher disease. HLD1 is an X-linked recessive dysmyelinating disorder of the central nervous system in which myelin is not formed properly. It is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay. Defects in PLP1 are the cause of spastic paraplegia X- linked type 2 (SPG2). SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy. Belongs to the myelin proteolipid protein family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Cell surface
Chromosomal Location of Human Ortholog: Xq22
Cellular Component: plasma membrane; integral to membrane; myelin sheath
Molecular Function: structural constituent of myelin sheath; structural molecule activity
Biological Process: integrin-mediated signaling pathway; synaptic transmission; substantia nigra development; myelination in the central nervous system; cell maturation; long-chain fatty acid biosynthetic process; axon ensheathment; inflammatory response; astrocyte development
Disease: Spastic Paraplegia 2, X-linked; Pelizaeus-merzbacher Disease
Research Articles on PLP1
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Products associated with PLP1 elisa kit
Pathways associated with PLP1 elisa kit
Diseases associated with PLP1 elisa kit
Organs/Tissues associated with PLP1 elisa kit
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