PLP1 Chromosome X

Proteolipid protein 1

151 variants 151 Health Risk

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What This Gene Does

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]

Associated Conditions (14)

Hereditary spastic paraplegia 2

Pelizaeus-Merzbacher disease

Inborn genetic diseases

Hereditary spastic paraplegia

See cases

Intellectual disability

PLP1-related disorder

atypical

connatal

mild

Thyroid cancer

nonmedullary

1

Auditory neuropathy spectrum disorder

Key Variants

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Inborn genetic diseases

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2, Inborn genetic diseases, Hereditary spastic paraplegia 2

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2, See cases, Hereditary spastic paraplegia 2

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2

Conflicting classifications of pathogenicity

Inborn genetic diseases, Pelizaeus-Merzbacher disease, Inborn genetic diseases

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2

Conflicting classifications of pathogenicity

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2

All Variants (151)

RSID	Category	Clinical Significance	Conditions
RS398123467	Health Risk	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2

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