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Gene

HEXB

hexosaminidase subunit beta

Summary

Cytogenetic location
5q13.3
Coordinates
Chromosome 5: 74,685,233–74,721,288 (GRCh38)
Exons
14 exons across 36.1 kb
Protein
556 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000261416.12NM_000521.4
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

  • Sandhoff Disease and GM2 Activator Deficiency

    • Sandhoff diseaseAutosomal recessive

      Deficiency of both hexosaminidase A and B causes progressive neurological decline, exaggerated startle and cherry-red spots in infants, with juvenile and adult forms causing ataxia, weakness or psychiatric symptoms.

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

      Treatment is supportive; carrier testing of relatives is possible once the familial variants are known.

Broader groupings

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 8 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 HEXB 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 HEXB sits. HEXB and 6 genes near it on chromosome 5, from 74,203,261 to 75,203,260.Chromosome 55q13.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.374.4 Mb74.6 Mb74.8 Mb75 Mb75.2 MbENC1: 74,627,406–74,641,424, reverse strandENC1HEXB: 74,685,233–74,721,288, forward strandHEXBGFM2: 74,721,206–74,767,155, reverse strandGFM2NSA2: 74,766,982–74,782,194, forward strandNSA2FAM169A: 74,777,573–74,867,022, reverse strandFAM169AGCNT4: 75,025,346–75,054,516, reverse strandGCNT4ANKRD31: 75,068,275–75,236,915, reverse strandANKRD31Diagram of HEXB: 14 exons on the forward strand of chromosome 5Exon 1: 26 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 6: 13 known disease-causing sitesExon 7: 23 known disease-causing sitesExon 8: 28 known disease-causing sitesExon 9: 12 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 11: 22 known disease-causing sitesExon 12: 9 known disease-causing sitesExon 13: 21 known disease-causing sitesExon 14: 8 known disease-causing sitesExon 1: 74,685,233–74,685,559, 327 basesExon 2: 74,689,328–74,689,473, 146 basesExon 3: 74,693,639–74,693,704, 66 basesExon 4: 74,696,693–74,696,739, 47 basesExon 5: 74,696,996–74,697,106, 111 basesExon 6: 74,705,219–74,705,320, 102 basesExon 7: 74,713,506–74,713,635, 130 basesExon 8: 74,715,510–74,715,690, 181 basesExon 9: 74,716,587–74,716,673, 87 basesExon 10: 74,718,291–74,718,363, 73 basesExon 11: 74,718,797–74,718,971, 175 basesExon 12: 74,720,428–74,720,518, 91 basesExon 13: 74,720,643–74,720,747, 105 basesExon 14: 74,721,118–74,721,288, 171 bases1510145′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 1.8 kb of the gene's 36.1 kb; 1,671 of those bases code for the protein.

How a genome test reads HEXB

217

positions in HEXB 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 36.1 kb of HEXB, introns included, not only the 1.8 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.). HEXB gene: hexosaminidase subunit beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/hexb

Vancouver

Dante Labs. HEXB gene: hexosaminidase subunit beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hexb

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