Skip to content
Use your HSA or FSA funds

Gene

PRF1

perforin 1

Summary

Cytogenetic location
10q22.1
Coordinates
Chromosome 10: 70,597,348–70,602,741 (GRCh38)
Exons
3 exons across 5.4 kb
Protein
555 amino acids
Inheritance
Autosomal recessive
Also known as
PFP, P1, HPLH2
MANE Select transcript
ENST00000441259.2NM_001083116.3
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

  • Familial Hemophagocytic Lymphohistiocytosis

    • Familial hemophagocytic lymphohistiocytosis type 2 (PRF1)Autosomal recessive

      Caused by changes in the PRF1 gene, which makes perforin, a protein immune cells use to destroy infected cells.

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

      Early recognition allows prompt treatment and planning for a stem cell transplant, which is the only cure.

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

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

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 PRF1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 10, with a bracket where PRF1 sits. PRF1 and 14 genes near it on chromosome 10, from 70,100,045 to 71,100,044.Chromosome 1010q22.1p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.370.2 Mb70.4 Mb70.6 Mb70.8 Mb71 MbMACROH2A2: 70,052,544–70,112,282, forward strandMACROH2A2AIFM2: 70,054,661–70,133,269, reverse strandAIFM2TYSND1: 70,137,978–70,146,720, reverse strandTYSND1SAR1A: 70,147,289–70,186,284, reverse strandSAR1APPA1: 70,202,831–70,233,911, reverse strandPPA1NPFFR1: 70,247,329–70,284,011, reverse strandNPFFR1LRRC20: 70,298,970–70,382,650, reverse strandLRRC20EIF4EBP2: 70,404,130–70,428,618, forward strandEIF4EBP2NODAL: 70,431,936–70,447,951, reverse strandNODALPALD1: 70,477,658–70,668,754, forward strandPALD1PRF1: 70,597,348–70,602,741, reverse strandPRF1ADAMTS14: 70,672,367–70,762,441, forward strandADAMTS14TBATA: 70,771,238–70,785,401, reverse strandTBATASGPL1: 70,815,899–70,958,721, forward strandSGPL1PCBD1: 70,882,280–70,888,616, reverse strandPCBD1Diagram of PRF1: 3 exons on the reverse strand of chromosome 10Exon 3: 94 known disease-causing sitesExon 2: 51 known disease-causing sitesExon 3: 70,597,348–70,599,181, 1,834 basesExon 2: 70,600,364–70,600,932, 569 basesExon 1: 70,602,645–70,602,741, 97 bases3215′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 2.5 kb of the gene's 5.4 kb; 1,668 of those bases code for the protein.

How a genome test reads PRF1

146

positions in PRF1 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 5.4 kb of PRF1, introns included, not only the 2.5 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.). PRF1 gene: perforin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/prf1

Vancouver

Dante Labs. PRF1 gene: perforin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prf1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test