Proteolipid protein 1 (PLP1) gene encodes for two major proteins of the central nervous system (CNS) myelin, such as proteolipid protein (PLP) and DM20. This gene is located on the human chromosome at Xq22.2.
Synonyms: Anti-GPM6C; Anti-PLP; Anti-SPG2
Storage: -20C
Biochem Physiol Actions: Proteolipid protein (PLP) is involved in membrane adhesion, compaction of myelin and synthesis of myelin intra-period line. It is also involved in the maturation of oligodendrocytes. PLP plays a role in wrapping, maintenance and survival of axons. Mutations in the proteolipid protein 1 (PLP1) gene is associated with Pelizaeus-Merzbacher disease indicated by nystagmus, spasticity, microcephaly, ataxia and intellectual disability. PLP1 gene plays a role in Xq22.2 microdeletion and microduplication syndromes. Duplication of this gene results in the overexpression of PLP, which leads to accumulation in the cytoplasm myelinating oligodendrocytes and defects in myelin.
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