Skip to content
Use your HSA or FSA funds

Gene

GBA1

glucosylceramidase beta 1

Summary

Cytogenetic location
1q22
Coordinates
Chromosome 1: 155,234,452–155,241,249 (GRCh38)
Exons
11 exons across 6.8 kb
Protein
536 amino acids
Inheritance
Autosomal recessive
Previous symbols
GLUC, GBA
MANE Select transcript
ENST00000368373.8NM_000157.4
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

  • Gaucher Disease

    • Autosomal recessive

      Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).

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

      Enzyme replacement therapy, substrate reduction therapy, supportive care, bone marrow transplantation

  • Parkinson Disease

    • A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.

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

      LRRK2 kinase inhibitor trials, substrate reduction therapy for GBA variants, α-synuclein-targeted approaches, dopaminergic medications, levodopa

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 GBA1 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 GBA1 sits. GBA1 and 36 genes near it on chromosome 1, from 154,737,851 to 155,737,850.Chromosome 11q22p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44154.8 Mb155 Mb155.2 Mb155.4 Mb155.6 MbKCNN3: 154,697,455–154,870,340, reverse strandKCNN3PMVK: 154,924,732–154,937,008, reverse strandPMVKPBXIP1: 154,944,059–154,956,451, reverse strandPYGO2: 154,957,025–154,963,853, reverse strandSHC1: 154,962,284–154,974,452, reverse strandSHC1CKS1B: 154,974,641–154,979,256, forward strandCKS1BFLAD1: 154,983,311–154,993,111, forward strandFLAD1LENEP: 154,993,586–154,994,315, forward strandLENEPZBTB7B: 155,002,543–155,018,525, forward strandDCST2: 155,018,520–155,033,781, reverse strandDCST1: 155,033,824–155,050,930, forward strandADAM15: 155,050,566–155,062,780, forward strandADAM15EFNA4: 155,063,718–155,069,553, forward strandEFNA4EFNA4-EFNA3: 155,063,748–155,086,807, forward strandEFNA4-EFNA3EFNA3: 155,078,823–155,087,538, forward strandEFNA3EFNA1: 155,127,452–155,134,899, forward strandEFNA1SLC50A1: 155,135,344–155,138,857, forward strandDPM3: 155,138,457–155,140,595, reverse strandDPM3KRTCAP2: 155,169,182–155,173,475, reverse strand: 155,169,409–155,187,272, reverse strandTRIM46: 155,173,787–155,184,971, forward strandTRIM46MUC1: 155,185,824–155,192,916, reverse strandMUC1THBS3: 155,195,584–155,209,203, reverse strandTHBS3MTX1: 155,208,695–155,213,824, forward strandMTX1GBA1: 155,234,452–155,241,249, reverse strandGBA1ENTREP3: 155,247,205–155,255,824, reverse strandENTREP3SCAMP3: 155,255,979–155,262,433, reverse strandSCAMP3CLK2: 155,262,747–155,278,491, reverse strandCLK2HCN3: 155,277,328–155,289,848, forward strandHCN3PKLR: 155,289,265–155,301,443, reverse strandFDPS: 155,304,786–155,320,666, forward strandFDPSRUSC1: 155,320,739–155,331,422, forward strandRUSC1ASH1L: 155,335,268–155,563,162, reverse strandASH1LMSTO1: 155,563,235–155,616,644, forward strandMSTO1: 155,626,755–155,648,640, reverse strandYY1AP1: 155,659,446–155,689,334, reverse strandYY1AP1DAP3: 155,687,833–155,740,132, forward strandDAP3Diagram of GBA1: 11 exons on the reverse strand of chromosome 1Exon 11: 12 known disease-causing sitesExon 10: 15 known disease-causing sitesExon 9: 41 known disease-causing sitesExon 8: 49 known disease-causing sitesExon 7: 38 known disease-causing sitesExon 6: 39 known disease-causing sitesExon 5: 24 known disease-causing sitesExon 4: 21 known disease-causing sitesExon 3: 15 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 11: 155,234,452–155,235,100, 649 basesExon 10: 155,235,195–155,235,311, 117 basesExon 9: 155,235,681–155,235,844, 164 basesExon 8: 155,236,245–155,236,469, 225 basesExon 7: 155,237,341–155,237,578, 238 basesExon 6: 155,238,134–155,238,306, 173 basesExon 5: 155,238,517–155,238,650, 134 basesExon 4: 155,239,616–155,239,762, 147 basesExon 3: 155,239,886–155,240,077, 192 basesExon 2: 155,240,630–155,240,717, 88 basesExon 1: 155,241,086–155,241,249, 164 bases11109876543215′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 2.3 kb of the gene's 6.8 kb; 1,611 of those bases code for the protein.

How a genome test reads GBA1

294

positions in GBA1 where ClinVar classes a change as pathogenic or likely pathogenic

294 of them (100%) fall in regions short reads find hard.

  • Low mappability (177 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (294 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 6.8 kb of GBA1, introns included, not only the 2.3 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.). GBA1 gene: glucosylceramidase beta 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gba1

Vancouver

Dante Labs. GBA1 gene: glucosylceramidase beta 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gba1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test