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Gene

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

Summary

Cytogenetic location
5q23.1
Coordinates
Chromosome 5: 119,452,497–119,542,332 (GRCh38)
Exons
24 exons across 89.8 kb
Protein
736 amino acids
Inheritance
Autosomal recessive
Also known as
MFE-2, DBP, SDR8C1
MANE Select transcript
ENST00000510025.7NM_000414.4
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

  • Female Infertility

    • Diminished or absent ability of a female to achieve conception.

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

  • Peroxisomal Enzyme Disorders & Refsum Disease

    • D-Bifunctional Protein DeficiencyAutosomal recessive

      Caused by variants in HSD17B4, which usually causes severe low muscle tone and seizures in infancy, while milder forms can cause hearing loss and ovarian failure (Perrault syndrome).

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

      Knowing can end a diagnostic search and guide supportive care and family planning.

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 HSD17B4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where HSD17B4 sits. HSD17B4 and 3 genes near it on chromosome 5, from 118,997,415 to 119,997,414.Chromosome 55q23.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3119 Mb119.2 Mb119.4 Mb119.6 Mb119.8 MbDMXL1: 119,037,772–119,249,138, forward strandDMXL1TNFAIP8: 119,268,691–119,399,688, forward strandTNFAIP8HSD17B4: 119,452,497–119,542,332, forward strandHSD17B4FAM170A: 119,629,558–119,635,822, forward strandFAM170ADiagram of HSD17B4: 24 exons on the forward strand of chromosome 5Exon 1: 10 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 8: 17 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 13 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 13: 17 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 17: 7 known disease-causing sitesExon 18: 6 known disease-causing sitesExon 19: 15 known disease-causing sitesExon 20: 7 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 22: 10 known disease-causing sitesExon 23: 6 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 1: 119,452,497–119,452,633, 137 basesExon 2: 119,456,315–119,456,368, 54 basesExon 3: 119,473,908–119,474,015, 108 basesExon 4: 119,474,401–119,474,460, 60 basesExon 5: 119,475,706–119,475,727, 22 basesExon 6: 119,475,824–119,475,870, 47 basesExon 7: 119,477,417–119,477,501, 85 basesExon 8: 119,478,834–119,479,021, 188 basesExon 9: 119,489,192–119,489,283, 92 basesExon 10: 119,492,100–119,492,124, 25 basesExon 11: 119,493,818–119,493,946, 129 basesExon 12: 119,496,543–119,496,646, 104 basesExon 13: 119,499,317–119,499,553, 237 basesExon 14: 119,502,041–119,502,092, 52 basesExon 15: 119,506,818–119,506,889, 72 basesExon 16: 119,509,141–119,509,244, 104 basesExon 17: 119,514,981–119,515,046, 66 basesExon 18: 119,525,216–119,525,285, 70 basesExon 19: 119,525,917–119,526,023, 107 basesExon 20: 119,527,133–119,527,219, 87 basesExon 21: 119,529,894–119,529,980, 87 basesExon 22: 119,531,266–119,531,404, 139 basesExon 23: 119,536,423–119,536,550, 128 basesExon 24: 119,541,905–119,542,332, 428 bases15101520245′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 2.6 kb of the gene's 89.8 kb; 2,211 of those bases code for the protein.

How a genome test reads HSD17B4

226

positions in HSD17B4 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 89.8 kb of HSD17B4, introns included, not only the 2.6 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.). HSD17B4 gene: hydroxysteroid 17-beta dehydrogenase 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/hsd17b4

Vancouver

Dante Labs. HSD17B4 gene: hydroxysteroid 17-beta dehydrogenase 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hsd17b4

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