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Gene

PLP1

proteolipid protein 1

Summary

Cytogenetic location
Xq22.2
Coordinates
Chromosome X: 103,776,840–103,792,619 (GRCh38)
Exons
7 exons across 15.8 kb
Protein
277 amino acids
Inheritance
X-linked recessive
Also known as
GPM6C
Previous symbols
SPG2, PLP
MANE Select transcript
ENST00000621218.5NM_000533.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Spastic Paraplegia

    • Hereditary Spastic Paraplegia 2X-linked recessive

      Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.

      • 2 GenCC submitters rate it definitive or strong
    • Hereditary Spastic Paraplegia (All Types)

      One of 66 genes linked to it

      Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

      • 2 GenCC submitters rate it definitive or strong

  • Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies

    • Pelizaeus-Merzbacher disease (PLP1)X-linked recessive

      Changes in PLP1, most often a duplication of the whole gene, cause nystagmus, low muscle tone and delayed motor development in boys, later followed by spasticity and ataxia; carrier females are usually unaffected or mildly affected.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides supportive care and allows carrier testing of female relatives.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How PLP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where PLP1 sits. PLP1 and 19 genes near it on chromosome X, from 103,284,730 to 104,284,729.Chromosome XXq22.2p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q28103.4 Mb103.6 Mb103.8 Mb104 Mb104.2 MbBEX2: 103,309,345–103,311,298, reverse strandBEX2TCEAL7: 103,310,446–103,332,332, forward strandTCEAL7TCEAL9: 103,356,162–103,358,696, forward strandTCEAL9BEX3: 103,375,818–103,380,937, forward strandBEX3RAB40A: 103,496,510–103,526,752, reverse strandRAB40ATCEAL4: 103,576,231–103,590,355, forward strandTCEAL4TCEAL3: 103,607,451–103,629,690, forward strandTCEAL3TCEAL1: 103,628,701–103,630,958, forward strandTCEAL1MORF4L2: 103,675,316–103,688,158, reverse strandMORF4L2TMEM31: 103,710,909–103,714,036, forward strandTMEM31PLP1: 103,776,840–103,792,619, forward strandPLP1RAB9B: 103,822,327–103,835,153, reverse strandRAB9BTMSB15B: 103,918,815–103,966,712, forward strandTMSB15BH2BW1: 104,011,147–104,013,708, reverse strandH2BW1H2BW2: 104,039,956–104,042,454, forward strandH2BW2TMSB15C: 104,063,871–104,076,236, reverse strandTMSB15CSLC25A53: 104,099,214–104,157,016, reverse strandSLC25A53ZCCHC18: 104,112,060–104,115,851, forward strandZCCHC18FAM199X: 104,166,416–104,195,902, forward strandFAM199XESX1: 104,250,038–104,254,933, reverse strandESX1Diagram of PLP1: 7 exons on the forward strand of chromosome XExon 1: 4 known disease-causing sitesExon 2: 25 known disease-causing sitesExon 3: 36 known disease-causing sitesExon 4: 16 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 6: 13 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 1: 103,776,840–103,776,999, 160 basesExon 2: 103,785,582–103,785,768, 187 basesExon 3: 103,786,465–103,786,726, 262 basesExon 4: 103,787,798–103,787,966, 169 basesExon 5: 103,788,437–103,788,510, 74 basesExon 6: 103,789,333–103,789,398, 66 basesExon 7: 103,790,527–103,792,619, 2,093 bases12345675′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3 kb of the gene's 15.8 kb; 834 of those bases code for the protein.

How a genome test reads PLP1

130

positions in PLP1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 15.8 kb of PLP1, introns included, not only the 3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PLP1 gene: proteolipid protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/plp1

Vancouver

Dante Labs. PLP1 gene: proteolipid protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/plp1

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