GLB1 Gene: Beta-Galactosidase and GM1 Gangliosidosis
Comprehensive guide to GLB1 gene, its function, associated diseases, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | GLB1 |
|---|---|
| Full Name | Galactosidase beta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.3 |
| NCBI Gene ID | 2720 ncbi.nlm.nih.gov/gene/2720 |
| Ensembl ID | ENSG00000170266 |
| UniProt ID | P16278 |
| OMIM ID | 611458 |
| HGNC ID | 4298 |
| Aliases | ELNR1, MPS4B, beta-galactosidase, lactase |
Description
The GLB1 gene encodes beta-galactosidase, a lysosomal enzyme that cleaves terminal beta-linked galactose residues from glycoproteins, glycolipids, and glycosaminoglycans. Mutations in GLB1 cause GM1 gangliosidosis and Morquio B syndrome, both lysosomal storage disorders. The gene also produces an alternatively spliced product, elastin-binding protein (EBP), involved in elastin assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| GM1 gangliosidosis | Loss of beta-galactosidase activity leads to accumulation of GM1 ganglioside in lysosomes, causing neurodegeneration and systemic symptoms. | ClinVar, OMIM |
| Morquio B syndrome | Specific mutations reduce beta-galactosidase activity against keratan sulfate, leading to skeletal dysplasia without primary neurodegeneration. | ClinVar, OMIM |
| Galactosialidosis | Secondary deficiency due to protective protein/cathepsin A (PPCA) defects, but GLB1 mutations can also cause similar phenotype. | OMIM, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.6 | Medium |
| Liver | 10.8 | Medium |
| Brain | 8.5 | Low |
| Lung | 7.2 | Low |
| Heart | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 11.4 | Lung carcinoma |
| K562 | 9.8 | Chronic myelogenous leukemia |
| MCF7 | 8.1 | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245C>T (p.Thr82Met) | Missense | Common in GM1 gangliosidosis | Reduced enzyme activity |
| c.1622G>A (p.Arg541His) | Missense | Associated with Morquio B | Loss of keratan sulfate cleavage |
| c.75+1G>A | Splice site | Rare | Splicing defect leading to truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most GLB1 mutations result in loss of beta-galactosidase enzymatic activity, leading to substrate accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported; all pathogenic variants are loss-of-function.
Dominant Negative (DN)
Not applicable; GLB1 is autosomal recessive, and heterozygous carriers are typically asymptomatic.
View complete mutation data：
Gene Ontology (GO)
| • beta-galactosidase activity | • lysosome |
| • carbohydrate metabolic process | • glycosphingolipid catabolic process |
| • elastin binding |
Pathways
• Lysosome
• Glycosphingolipid metabolism
• Glycosaminoglycan degradation
Protein Summary
Beta-galactosidase (GLB1) is a lysosomal hydrolase that removes terminal galactose residues from various substrates. It is essential for the breakdown of GM1 ganglioside, keratan sulfate, and glycoproteins. Defects cause lysosomal storage diseases. The protein also exists as an elastin-binding protein (EBP) that plays a role in elastin fiber assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GLB1 Knockout HEK293 Cell Line | EDJ-KQ4716 | Human | 2720 | Details Get a Quote |
| GLB1L3 Knockout HEK293 Cell Line | EDJ-KQ7402 | Human | 112937 | Details Get a Quote |
| SH3GLB1 Knockout HEK293 Cell Line | EDJ-KQ10215 | Human | 51100 | Details Get a Quote |
| GLB1L2 Knockout HEK293 Cell Line | EDJ-KQ10542 | Human | 89944 | Details Get a Quote |
| GLB1L Knockout HEK293 Cell Line | EDJ-KQ13607 | Human | 79411 | Details Get a Quote |
| GLB1L2 Knockout A-549 Cell Line | EDJ-KQ37978 | Human | 89944 | Details Get a Quote |
| GLB1L2 Knockout HCT 116 Cell Line | EDJ-KQ37979 | Human | 89944 | Details Get a Quote |
| GLB1L2 Knockout HeLa Cell Line | EDJ-KQ37980 | Human | 89944 | Details Get a Quote |
| GLB1L Knockout A-549 Cell Line | EDJ-KQ42017 | Human | 79411 | Details Get a Quote |
| GLB1 Knockout A-549 Cell Line | EDJ-KQ27437 | Human | 2720 | Details Get a Quote |
| GLB1 Knockout HCT 116 Cell Line | EDJ-KQ27438 | Human | 2720 | Details Get a Quote |
| GLB1 Knockout HeLa Cell Line | EDJ-KQ27439 | Human | 2720 | Details Get a Quote |
| SH3GLB1 Knockout A-549 Cell Line | EDJ-KQ38677 | Human | 51100 | Details Get a Quote |
| SH3GLB1 Knockout HCT 116 Cell Line | EDJ-KQ38678 | Human | 51100 | Details Get a Quote |
| SH3GLB1 Knockout HeLa Cell Line | EDJ-KQ38679 | Human | 51100 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records
