Human Proteolipid Protein 1, Myelin ELISA Kit | PLP1 elisa kit
Human Proteolipid Protein 1, Myelin ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 Description
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: integral to membrane; plasma 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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Product Notes
The Human PLP1 plp1 (Catalog #AAA733199) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA733199 ELISA Kit recognizes Human PLP1. It is sometimes possible for the material contained within the vial of "Proteolipid Protein 1, Myelin, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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