Skip to content
Use your HSA or FSA funds

Gene

PERP

p53 apoptosis effector related to PMP22

Summary

Cytogenetic location
6q23.3
Coordinates
Chromosome 6: 138,088,505–138,107,419 (GRCh38)
Exons
3 exons across 18.9 kb
Protein
193 amino acids
Also known as
PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1
MANE Select transcript
ENST00000421351.4NM_022121.5
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 report relevant to this gene

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

How PERP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 6, with a bracket where PERP sits. PERP and 6 genes near it on chromosome 6, from 137,597,962 to 138,597,961.Chromosome 66q23.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27137.6 Mb137.8 Mb138 Mb138.2 Mb138.4 MbTNFAIP3: 137,866,383–137,885,836, forward strandTNFAIP3PERP: 138,088,505–138,107,419, reverse strandPERPARFGEF3: 138,161,692–138,344,663, forward strandARFGEF3PBOV1: 138,215,986–138,218,491, reverse strandPBOV1SMIM28: 138,377,905–138,383,486, forward strandSMIM28HEBP2: 138,403,531–138,422,197, forward strandHEBP2NHSL1: 138,422,033–138,693,253, reverse strandNHSL1Diagram of PERP: 3 exons on the reverse strand of chromosome 6Exon 3: 138,088,505–138,092,268, 3,764 basesExon 2: 138,096,354–138,096,494, 141 basesExon 1: 138,107,127–138,107,419, 293 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 4.2 kb of the gene's 18.9 kb; 582 of those bases code for the protein.

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.
  • 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.). PERP gene: p53 apoptosis effector related to PMP22. Retrieved 16 October 2026, from https://dantelabs.com/genes/perp

Vancouver

Dante Labs. PERP gene: p53 apoptosis effector related to PMP22 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/perp

One test. A lifetime of answers.

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

Get my Genome Test