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Gene

ZMPSTE24

zinc metallopeptidase STE24

Summary

Cytogenetic location
1p34.2
Coordinates
Chromosome 1: 40,258,236–40,294,180 (GRCh38)
Exons
10 exons across 35.9 kb
Protein
475 amino acids
Inheritance
Autosomal recessive
Also known as
FACE-1, Ste24p, STE24, HGPS, PRO1
MANE Select transcript
ENST00000372759.4NM_005857.5
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

  • Lipodystrophy

    • Mandibuloacral DysplasiaAutosomal recessive

      Caused by variants in LMNA (type A) or ZMPSTE24 (type B), which cause underdevelopment of the jaw and collarbones, skin changes, fat loss and metabolic complications such as insulin resistance.

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

      Knowing guides monitoring for diabetes, lipid and other complications.

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 ZMPSTE24 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where ZMPSTE24 sits. ZMPSTE24 and 16 genes near it on chromosome 1, from 39,776,208 to 40,776,207.Chromosome 11p34.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4439.8 Mb40 Mb40.2 Mb40.4 Mb40.6 MbBMP8B: 39,756,765–39,788,865, reverse strandBMP8BTRIT1: 39,838,110–39,883,511, reverse strandTRIT1MYCL: 39,893,597–39,902,256, reverse strandMYCLMFSD2A: 39,955,112–39,972,134, forward strandMFSD2ACAP1: 40,039,735–40,072,767, forward strandCAP1PPT1: 40,072,710–40,097,267, reverse strandPPT1RLF: 40,161,357–40,240,923, forward strandRLFTMCO2: 40,245,947–40,251,684, forward strandTMCO2ZMPSTE24: 40,258,236–40,294,180, forward strandZMPSTE24COL9A2: 40,300,487–40,317,813, reverse strandCOL9A2SMAP2: 40,344,850–40,423,326, forward strandSMAP2ZFP69B: 40,450,053–40,464,142, forward strandZFP69BZFP69: 40,477,233–40,497,331, forward strandZFP69EXO5: 40,508,441–40,518,869, forward strandEXO5ZNF684: 40,531,557–40,593,265, forward strandZNF684RIMS3: 40,620,679–40,665,728, reverse strandRIMS3NFYC: 40,691,570–40,771,606, forward strandNFYCDiagram of ZMPSTE24: 10 exons on the forward strand of chromosome 1Exon 1: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 1: 40,258,236–40,258,394, 159 basesExon 2: 40,260,839–40,260,985, 147 basesExon 3: 40,267,786–40,267,872, 87 basesExon 4: 40,268,419–40,268,535, 117 basesExon 5: 40,269,975–40,270,127, 153 basesExon 6: 40,271,894–40,272,035, 142 basesExon 7: 40,281,343–40,281,527, 185 basesExon 8: 40,285,925–40,286,029, 105 basesExon 9: 40,290,854–40,290,997, 144 basesExon 10: 40,292,445–40,294,180, 1,736 bases123456789105′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 35.9 kb; 1,428 of those bases code for the protein.

How a genome test reads ZMPSTE24

15

positions in ZMPSTE24 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 35.9 kb of ZMPSTE24, 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.). ZMPSTE24 gene: zinc metallopeptidase STE24. Retrieved 16 October 2026, from https://dantelabs.com/genes/zmpste24

Vancouver

Dante Labs. ZMPSTE24 gene: zinc metallopeptidase STE24 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/zmpste24

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