Parathyroid Hormone Like (PLP) ELISA Kit for Human

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. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]

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; Cell surface; Membrane protein, multi-pass

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