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Gene

PYCR2

pyrroline-5-carboxylate reductase 2

Summary

Cytogenetic location
1q42.12
Coordinates
Chromosome 1: 225,919,878–225,924,250 (GRCh38)
Exons
7 exons across 4.4 kb
Protein
320 amino acids
Inheritance
Autosomal recessive
Also known as
P5CR2
MANE Select transcript
ENST00000343818.11NM_013328.4
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

  • Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies

    • Hypomyelinating leukodystrophy 10 (PYCR2)Autosomal recessive

      A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.

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

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

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PYCR2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where PYCR2 sits. PYCR2 and 14 genes near it on chromosome 1, from 225,422,064 to 226,422,063.Chromosome 11q42.12p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44225.6 Mb225.8 Mb226 Mb226.2 Mb226.4 MbLBR: 225,400,900–225,428,925, reverse strandLBRENAH: 225,486,765–225,653,334, reverse strandENAHSRP9: 225,777,699–225,790,670, forward strandSRP9EPHX1: 225,810,048–225,845,567, forward strandEPHX1TMEM63A: 225,845,532–225,884,122, reverse strandTMEM63ALEFTY1: 225,886,279–225,911,382, reverse strandLEFTY1: 225,886,696–225,924,278, reverse strandPYCR2: 225,919,878–225,924,250, reverse strandPYCR2LEFTY2: 225,936,598–225,941,532, reverse strandLEFTY2SDE2: 225,982,693–225,999,385, reverse strandSDE2H3-3A: 226,061,571–226,073,207, forward strandH3-3AACBD3: 226,144,679–226,186,763, reverse strandACBD3MIXL1: 226,223,508–226,227,384, forward strandMIXL1LIN9: 226,231,149–226,309,869, reverse strandLIN9PARP1: 226,360,210–226,408,154, reverse strandPARP1Diagram of PYCR2: 7 exons on the reverse strand of chromosome 1Exon 6: 7 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 1: 1 known disease-causing siteExon 7: 225,919,878–225,920,620, 743 basesExon 6: 225,921,208–225,921,371, 164 basesExon 5: 225,921,552–225,921,644, 93 basesExon 4: 225,921,858–225,922,079, 222 basesExon 3: 225,922,204–225,922,383, 180 basesExon 2: 225,923,701–225,923,771, 71 basesExon 1: 225,924,044–225,924,250, 207 bases76543215′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 1.7 kb of the gene's 4.4 kb; 963 of those bases code for the protein.

How a genome test reads PYCR2

24

positions in PYCR2 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 4.4 kb of PYCR2, introns included, not only the 1.7 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.). PYCR2 gene: pyrroline-5-carboxylate reductase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/pycr2

Vancouver

Dante Labs. PYCR2 gene: pyrroline-5-carboxylate reductase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pycr2

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