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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GLB1
galactosidase beta 1
Chromosome 3 · 3p22.3
NCBI Gene: 2720Ensembl: ENSG00000170266.16HGNC: HGNC:4298UniProt: B7Z6Q5
179PubMed Papers
24Diseases
0Drugs
323Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homodimerization activitycytoplasmglycoprotein catabolic processganglioside catabolic processmucopolysaccharidosis type 4BGM1 gangliosidosis type 1GM1 gangliosidosis type 3GM1 gangliosidosis type 2
✦AI Summary

GLB1 encodes lysosomal β-galactosidase, a critical enzyme involved in glycoconjugate degradation and cellular homeostasis. The enzyme catalyzes the hydrolysis of β-galactoside linkages in various substrates including GM1-ganglioside, glycoproteins, and keratan sulfate 1. GLB1 serves as the basis for senescence-associated β-galactosidase (SA-β-gal) activity, a widely used biomarker for cellular senescence detectable at pH 6.0, which represents increased expression of the lysosomal enzyme during senescence 2. The protein functions within lysosomes to maintain cellular homeostasis through substrate degradation, and its dysregulation is implicated in various pathological processes. Mutations in GLB1 cause GM1-gangliosidosis, a progressive lysosomal storage disorder characterized by accumulation of GM1-ganglioside and other galactose-containing glycoconjugates in neuronal tissue, leading to severe neurocognitive decline 1. The disease is classified into three forms based on age of onset, with Type I being the most severe infantile form. GLB1 activity is also linked to autophagy regulation and mitochondrial quality control, as demonstrated in studies of cellular senescence where SA-β-gal expression correlates with autophagic processes and cellular stress responses 34. Current therapeutic approaches include gene therapy trials targeting GLB1 restoration.

Sources cited
1
GLB1 encodes β-galactosidase enzyme involved in glycoconjugate degradation and GM1-gangliosidosis pathogenesis
PMID: 34539759
2
GLB1 is the source of senescence-associated β-galactosidase activity used as a biomarker for cellular senescence
PMID: 16626397
3
GLB1/SA-β-gal expression is associated with cellular senescence and stress responses
PMID: 30290714
4
GLB1/SA-β-gal activity correlates with autophagy-induced cellular processes
PMID: 31931659
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ24
mucopolysaccharidosis type 4BOpen Targets
0.85Strong
GM1 gangliosidosis type 1Open Targets
0.85Strong
GM1 gangliosidosis type 3Open Targets
0.84Strong
GM1 gangliosidosis type 2Open Targets
0.84Strong
GM1 gangliosidosisOpen Targets
0.67Moderate
mucopolysaccharidosis type 4Open Targets
0.58Moderate
genetic disorderOpen Targets
0.53Moderate
asthmaOpen Targets
0.51Moderate
mucopolysaccharidosisOpen Targets
0.46Moderate
atopic eczemaOpen Targets
0.43Moderate
Eczematoid dermatitisOpen Targets
0.38Weak
Lysosomal diseaseOpen Targets
0.37Weak
Abnormal cerebral white matter morphologyOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
allergic rhinitisOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.34Weak
spondyloepiphyseal dysplasiaOpen Targets
0.34Weak
progressive familial intrahepatic cholestasisOpen Targets
0.34Weak
spastic ataxiaOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
GM1-gangliosidosis 1UniProt
GM1-gangliosidosis 2UniProt
GM1-gangliosidosis 3UniProt
Mucopolysaccharidosis 4BUniProt
Pathogenic Variants323
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)Pathogenic
GM1 gangliosidosis type 3|Inborn genetic diseases|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|not provided
★★☆☆2026→ Residue 82
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)Pathogenic
GM1 gangliosidosis type 3|GM1 gangliosidosis type 3;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 457
NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)Pathogenic
Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 262
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)Pathogenic
Infantile GM1 gangliosidosis|not provided|GM1 gangliosidosis type 2|GM1 gangliosidosis type 3|Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Inborn genetic diseases
★★☆☆2026→ Residue 208
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)Pathogenic
GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|not provided|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 36
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)Pathogenic
Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis|not provided|Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;GM1 gangliosidosis type 2
★★☆☆2026→ Residue 273
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)Pathogenic
Mucopolysaccharidosis, MPS-IV-B|not provided|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Spondyloepiphyseal dysplasia|GM1 gangliosidosis
★★☆☆2026→ Residue 438
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)Pathogenic
GM1 gangliosidosis type 3|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 51
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)Pathogenic
not provided|GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis
★★☆☆2026→ Residue 155
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)Pathogenic
Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;GM1 gangliosidosis type 3;Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 191
NM_000404.4(GLB1):c.443G>A (p.Arg148His)Pathogenic
Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 2;GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis
★★☆☆2026→ Residue 148
NM_000404.4(GLB1):c.699del (p.Gln234fs)Pathogenic
GM1 gangliosidosis|not provided|GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 234
NM_000404.4(GLB1):c.1398_1399del (p.Gly467fs)Pathogenic
GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 467
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)Pathogenic
Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 2;Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis|not provided|GM1 gangliosidosis type 3
★★☆☆2026→ Residue 500
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)Pathogenic
GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2|not provided|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|GM1 gangliosidosis|GLB1-related disorder|Mucopolysaccharidosis, MPS-IV-B|Lung cancer
★★☆☆2026→ Residue 148
NM_000404.4(GLB1):c.602G>A (p.Arg201His)Pathogenic
not provided|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Infantile GM1 gangliosidosis|GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3
★★☆☆2026→ Residue 201
NM_000404.4(GLB1):c.733+1G>APathogenic
GM1 gangliosidosis type 3;Mucopolysaccharidosis, MPS-IV-B;Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|not provided|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)Pathogenic
GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis;GM1 gangliosidosis type 3;GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B|not provided|Infantile GM1 gangliosidosis|GLB1-related disorder|GM1 gangliosidosis type 2|GM1 gangliosidosis type 3|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2026→ Residue 442
NM_000404.4(GLB1):c.846del (p.Thr283fs)Pathogenic
Infantile GM1 gangliosidosis;GM1 gangliosidosis type 2;Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|GM1 gangliosidosis|GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B
★★☆☆2025→ Residue 283
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)Pathogenic
not provided|Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GLB1-related disorder|GM1 gangliosidosis
★★☆☆2025→ Residue 301
View on ClinVar ↗
Related Genes
B4GALT1Protein interaction99%G6PC2Protein interaction99%ELNProtein interaction99%AKR1B1Protein interaction98%GBA1Protein interaction98%G6PC3Protein interaction98%
Tissue Expression6 tissues
Lung
100%
Liver
91%
Bone Marrow
73%
Ovary
70%
Heart
63%
Brain
36%
Gene Interaction Network
Click a node to explore
GLB1B4GALT1G6PC2ELNAKR1B1GBA1G6PC3
PROTEIN STRUCTURE
Preparing viewer…
PDB3THD · 1.79 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.61–0.94]
RankingsWhere GLB1 stands among ~20K protein-coding genes
  • #2,435of 20,598
    Most Researched179 · top quartile
  • #185of 5,498
    Most Pathogenic Variants323 · top 5%
  • #8,715of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedGLB1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
ROS-mediated lysosomal membrane permeabilization and autophagy inhibition regulate bleomycin-induced cellular senescence.
PMID: 38762757
Autophagy · 2024
1.00
2
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase.
PMID: 16626397
Aging Cell · 2006
0.90
3
Tubular cells produce FGF2 via autophagy after acute kidney injury leading to fibroblast activation and renal fibrosis.
PMID: 35491858
Autophagy · 2023
0.80
4
PRKN-regulated mitophagy and cellular senescence during COPD pathogenesis.
PMID: 30290714
Autophagy · 2019
0.70
5
Autophagy regulates cellular senescence by mediating the degradation of CDKN1A/p21 and CDKN2A/p16 through SQSTM1/p62-mediated selective autophagy in myxomatous mitral valve degeneration.
PMID: 39988732
Autophagy · 2025
0.64