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Gene

HADHB

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

Summary

Cytogenetic location
2p23.3
Coordinates
Chromosome 2: 26,244,939–26,290,465 (GRCh38)
Exons
16 exons across 45.5 kb
Protein
474 amino acids
Inheritance
Autosomal recessive
Also known as
MTPB
MANE Select transcript
ENST00000317799.10NM_000183.3
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 report relevant to this gene

  • Fatty Acid Oxidation & Carnitine Cycle Disorders

    • Mitochondrial Trifunctional Protein DeficiencyAutosomal recessive

      Caused by variants in HADHA or HADHB, which can cause low blood sugar, heart and liver problems, muscle breakdown, and later nerve damage.

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

      Knowing allows a low long-chain-fat diet with medium-chain fat supplements and an emergency plan for illness.

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 HADHB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where HADHB sits. HADHB and 14 genes near it on chromosome 2, from 25,767,702 to 26,767,701.Chromosome 22p23.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.325.8 Mb26 Mb26.2 Mb26.4 Mb26.6 MbASXL2: 25,733,753–25,878,600, reverse strandASXL2KIF3C: 25,926,180–25,982,761, reverse strandKIF3CRAB10: 26,033,481–26,138,575, forward strandRAB10GAREM2: 26,173,071–26,196,434, forward strandGAREM2HADHA: 26,189,833–26,245,044, reverse strandHADHAHADHB: 26,244,939–26,290,465, forward strandHADHBADGRF3: 26,308,173–26,346,817, reverse strandADGRF3SELENOI: 26,308,547–26,395,885, forward strandSELENOIDRC1: 26,401,908–26,456,717, forward strandDRC1OTOF: 26,457,203–26,558,756, reverse strandOTOFCIMIP2C: 26,562,542–26,581,178, forward strandCIMIP2CCIB4: 26,579,428–26,641,366, reverse strandCIB4KCNK3: 26,692,713–26,733,420, forward strandKCNK3SLC35F6: 26,764,240–26,781,231, forward strandSLC35F6CENPA: 26,764,289–26,801,067, forward strandCENPADiagram of HADHB: 16 exons on the forward strand of chromosome 2Exon 2: 3 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 5 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 8: 12 known disease-causing sitesExon 9: 11 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 12: 1 known disease-causing siteExon 13: 5 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 15: 7 known disease-causing sitesExon 1: 26,244,939–26,244,990, 52 basesExon 2: 26,254,247–26,254,318, 72 basesExon 3: 26,254,430–26,254,474, 45 basesExon 4: 26,263,380–26,263,479, 100 basesExon 5: 26,269,953–26,269,997, 45 basesExon 6: 26,273,651–26,273,750, 100 basesExon 7: 26,277,073–26,277,160, 88 basesExon 8: 26,278,614–26,278,801, 188 basesExon 9: 26,279,135–26,279,315, 181 basesExon 10: 26,279,994–26,280,115, 122 basesExon 11: 26,282,845–26,282,924, 80 basesExon 12: 26,283,004–26,283,051, 48 basesExon 13: 26,284,117–26,284,204, 88 basesExon 14: 26,284,883–26,284,957, 75 basesExon 15: 26,285,407–26,285,571, 165 basesExon 16: 26,289,918–26,290,465, 548 bases12468101214165′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 kb of the gene's 45.5 kb; 1,425 of those bases code for the protein.

How a genome test reads HADHB

101

positions in HADHB 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 45.5 kb of HADHB, introns included, not only the 2 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.). HADHB gene: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta. Retrieved 16 October 2026, from https://dantelabs.com/genes/hadhb

Vancouver

Dante Labs. HADHB gene: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hadhb

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