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Gene

GLB1

galactosidase beta 1

Summary

Cytogenetic location
3p22.3
Coordinates
Chromosome 3: 32,996,617–33,097,146 (GRCh38)
Exons
16 exons across 100.5 kb
Protein
677 amino acids
Inheritance
Autosomal recessive
Also known as
EBP
Previous symbols
ELNR1
MANE Select transcript
ENST00000307363.10NM_000404.4
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

  • GM1 Gangliosidosis and Morquio B Syndrome

    • GM1 gangliosidosisAutosomal recessive

      Infantile, late-infantile/juvenile and adult forms with progressive neurological decline, and in infants cherry-red spots, organ enlargement and skeletal changes.

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

      Treatment is supportive; a genetic diagnosis allows family testing and access to clinical trials.

    • Mucopolysaccharidosis type IVB (Morquio B syndrome)Autosomal recessive

      Skeletal changes similar to Morquio A syndrome, with short stature and joint laxity, usually with little neurological involvement.

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

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
      • 7 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 GLB1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where GLB1 sits. GLB1 and 10 genes near it on chromosome 3, from 32,546,882 to 33,546,881.Chromosome 33p22.3p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2932.6 Mb32.8 Mb33 Mb33.2 Mb33.4 MbDYNC1LI1: 32,525,974–32,570,949, reverse strandDYNC1LI1CNOT10: 32,685,109–32,773,875, forward strandCNOT10TRIM71: 32,817,017–32,897,824, forward strandTRIM71CCR4: 32,951,644–32,957,120, forward strandCCR4GLB1: 32,996,617–33,097,146, reverse strandGLB1TMPPE: 33,083,568–33,097,229, reverse strandTMPPECRTAP: 33,113,912–33,147,773, forward strandCRTAPSUSD5: 33,150,038–33,219,278, reverse strandSUSD5FBXL2: 33,277,025–33,404,498, forward strandFBXL2UBP1: 33,388,336–33,441,407, reverse strandUBP1CLASP2: 33,496,187–33,718,414, reverse strandCLASP2Diagram of GLB1: 16 exons on the reverse strand of chromosome 3Exon 16: 15 known disease-causing sitesExon 15: 26 known disease-causing sitesExon 14: 18 known disease-causing sitesExon 13: 18 known disease-causing sitesExon 12: 8 known disease-causing sitesExon 11: 4 known disease-causing sitesExon 10: 14 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 8: 15 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 6: 19 known disease-causing sitesExon 5: 17 known disease-causing sitesExon 4: 18 known disease-causing sitesExon 3: 20 known disease-causing sitesExon 2: 20 known disease-causing sitesExon 1: 6 known disease-causing sitesExon 16: 32,996,617–32,997,344, 728 basesExon 15: 33,014,056–33,014,310, 255 basesExon 14: 33,016,709–33,016,840, 132 basesExon 13: 33,018,448–33,018,561, 114 basesExon 12: 33,021,566–33,021,655, 90 basesExon 11: 33,024,251–33,024,325, 75 basesExon 10: 33,046,120–33,046,232, 113 basesExon 9: 33,051,758–33,051,798, 41 basesExon 8: 33,051,883–33,052,004, 122 basesExon 7: 33,053,491–33,053,549, 59 basesExon 6: 33,058,089–33,058,269, 181 basesExon 5: 33,065,463–33,065,557, 95 basesExon 4: 33,068,230–33,068,290, 61 basesExon 3: 33,068,820–33,068,970, 151 basesExon 2: 33,072,544–33,072,713, 170 basesExon 1: 33,097,011–33,097,146, 136 bases16141210864215′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 2.5 kb of the gene's 100.5 kb; 2,034 of those bases code for the protein.

How a genome test reads GLB1

263

positions in GLB1 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 100.5 kb of GLB1, introns included, not only the 2.5 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.). GLB1 gene: galactosidase beta 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/glb1

Vancouver

Dante Labs. GLB1 gene: galactosidase beta 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/glb1

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