PLP1 Chromosome X
Proteolipid protein 1
Upload your DNA to see your personal genotypes for variants in PLP1.
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
RS132630295
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Inborn genetic diseases
Health Risk
RS1364496996
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Inborn genetic diseases, Hereditary spastic paraplegia 2
Health Risk
RS1451785682
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
Health Risk
RS2074497991
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
Health Risk
RS2147764616
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia
Health Risk
RS2147765890
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
Health Risk
RS2147766068
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, See cases, Hereditary spastic paraplegia 2
Health Risk
RS2147766937
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
Health Risk
RS2522301501
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pelizaeus-Merzbacher disease, Inborn genetic diseases
Health Risk
RS2522307983
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
Health Risk
RS2522318249
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
Health Risk
RS2522328650
Conflicting classifications of pathogenicity
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2
Health Risk
All Variants (151)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1569427311 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1602373055 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS1602382829 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1602383261 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1602384101 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2074517785 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2147752783 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2147762900 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2147764198 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2147764477 | Health Risk | Pathogenic | — |
| RS2147764567 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2147764596 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2147765873 | Health Risk | Pathogenic | — |
| RS2147766999 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2147767061 | Health Risk | Pathogenic | — |
| RS2522301730 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522301910 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522301939 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522307282 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522307891 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522307997 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522308229 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522308250 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Thyroid cancer, nonmedullary |
| RS2522308589 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522313979 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522313994 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Thyroid cancer |
| RS2522315171 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522315461 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522317749 | Health Risk | Pathogenic | Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder |
| RS2522322584 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522322595 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522322864 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS797045064 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease |
| RS864622194 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Inborn genetic diseases, Inborn genetic diseases |
| RS886039487 | Health Risk | Pathogenic | — |
| RS886039537 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS886041648 | Health Risk | Pathogenic | — |
| RS113897548 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease |
| RS11543022 | Health Risk | Pathogenic/Likely pathogenic | Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease |
| RS132630288 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS132630292 | Health Risk | Pathogenic/Likely pathogenic | Pelizaeus-Merzbacher disease, atypical, Hereditary spastic paraplegia 2 |
| RS1556267123 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease |
| RS1556267388 | Health Risk | Pathogenic/Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1556273167 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 2, PLP1-related disorder, Pelizaeus-Merzbacher disease |
| RS1602383021 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS1602385672 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2074490307 | Health Risk | Pathogenic/Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2147764634 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia, Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2 |
| RS2522318268 | Health Risk | Pathogenic/Likely pathogenic | Pelizaeus-Merzbacher disease, Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease |
| RS2522323175 | Health Risk | Pathogenic/Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |