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 |
|---|---|---|---|
| RS2522301460 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301484 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301526 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301573 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301625 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301673 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522301757 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522306651 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522306764 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522306943 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522307136 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522307850 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522308071 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522308342 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522308926 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, atypical, Pelizaeus-Merzbacher disease |
| RS2522314007 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522314343 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522314448 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522314822 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522315377 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS2522315449 | Health Risk | Likely pathogenic | — |
| RS2522315532 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522317742 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522317774 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522317884 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522317982 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522318452 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522323163 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522323235 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS2522323274 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS398123466 | Health Risk | Likely pathogenic | — |
| RS749278720 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS786205605 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS878853076 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS886044450 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 2, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS917348091 | Health Risk | Likely pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1038021317 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1060499653 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630278 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630280 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630282 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630284 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630285 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS132630286 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, connatal, Pelizaeus-Merzbacher disease |
| RS132630290 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, mild, Hereditary spastic paraplegia 2 |
| RS132630293 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, connatal, Pelizaeus-Merzbacher disease |
| RS132630296 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1467533825 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |
| RS1556267215 | Health Risk | Pathogenic | Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease |
| RS1556267287 | Health Risk | Pathogenic | Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2 |