Plp1

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.

Involvement in disease

Leukodystrophy, hypomyelinating, 1

HLD1

An X-linked recessive disorder of the central nervous system in which myelin is not formed properly. Clinically characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay.

None

The disease is caused by variants affecting the gene represented in this entry.

Spastic paraplegia 2, X-linked

SPG2

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG2 is characterized by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory disturbance, intellectual disability, optic atrophy.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the myelin proteolipid protein family.

Cellular localization

• Cell membrane
• Multi-pass membrane protein
• Myelin membrane
• Colocalizes with SIRT2 in internodal regions, at paranodal axoglial junction and Schmidt-Lanterman incisures of myelin sheat.

Alternative names

• PLP
• PLP
• PLP1
• Myelin proteolipid protein
• PLP
• Lipophilin

Database links

• entrezGene:5354
• omim:300401
• swissprot:P60201

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

30077Da