PLP is a major constituent of myelin. The two isoforms of the myelin proteolipid protein, PLP and DM20, are very hydrophobic integral membrane proteins that account for about half of the protein content of adult CNS myelin. A mutation in the gene which encodes PLP is linked to Pelizaeus-Merzbacher disease (PMD), a chronic infantile type of diffuse cerebral sclerosis. The gene which encodes PLP maps to human chromosome Xq22. The glycoprotein zero (also designated P-zero or myelin peripheral protein) is the primary structural protein of peripheral myelin, and accounts for more than 50% of the protein present in the peripheral nerve sheath. Zero is an integral membrane glycoprotein. Expression of zero is restricted to Schwann cells. The gene which encodes zero maps to human chromosome 1q22. PMP22 (peripheral myelin protein 22) is a growth-regulated membrane protein which is expressed by Schwann cells and is localized primarily in compact peripheral nervous system myelin. The gene which encodes PMP22 maps to human chromosome 17p11.2.
Function:
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.
Subunit:
Belongs to the myelin proteolipid protein family.
Subcellular Location:
Membrane; Multi-pass membrane protein.
DISEASE:
Defects in PLP1 are the cause of leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]; 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) [MIM:312920]. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, mental retardation, optic atrophy.
Similarity:
Belongs to the myelin proteolipid protein family.
SWISS:
P60203
Gene ID:
24943
Database links:
Entrez Gene: 281410 Cow
Entrez Gene: 481002 Dog
Entrez Gene: 5354 Human
Entrez Gene: 18823 Mouse
Entrez Gene: 24943 Rat
Omim: 300401 Human
SwissProt: P04116 Cow
SwissProt: P23294 Dog
SwissProt: P60201 Human
SwissProt: P60202 Mouse
SwissProt: P60203 Rat
Unigene: 49691 Cow
Unigene: 1787 Human
Unigene: 1268 Mouse
Unigene: 4550 Rat
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