GLB1 Chromosome 3
Galactosidase beta 1
Upload your DNA to see your personal genotypes for variants in GLB1.
What This Gene Does
This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
Galactosidases beta
Locus Type
gene with protein product
Location
3p22.3
Ensembl
ENSG00000170266
Associated Conditions (24)
Mucopolysaccharidosis
MPS-IV-B
GM1 gangliosidosis
Infantile GM1 gangliosidosis
GLB1-related disorder
Chronic lymphocytic leukemia/small lymphocytic lymphoma
See cases
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
Inborn genetic diseases
Lung cancer
GM1-gangliosidosis
type I
with cardiac involvement
Nonpapillary renal cell carcinoma
Thyroid cancer
nonmedullary
1
Uveal melanoma
Spondyloepiphyseal dysplasia
+4 more conditions
Key Variants
RS111840209
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Health Risk
RS113534264
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Health Risk
RS1165249729
Conflicting classifications of pathogenicity
GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B
Health Risk
RS1172435886
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Health Risk
RS1198846361
Conflicting classifications of pathogenicity
GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B
Health Risk
RS1244404381
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Health Risk
RS1350583798
Conflicting classifications of pathogenicity
GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B
Health Risk
RS139730198
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Health Risk
RS1408171481
Conflicting classifications of pathogenicity
GM1 gangliosidosis, GLB1-related disorder, GM1 gangliosidosis
Health Risk
RS145674318
Conflicting classifications of pathogenicity
GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B
Health Risk
RS1575451599
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS1696330609
Conflicting classifications of pathogenicity
Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis
Health Risk
All Variants (290)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553612220 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1559385963 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1559401428 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1559408259 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1697335361 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1699291583 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS189115557 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS192732174 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS2125469895 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125478934 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125533195 | Health Risk | Pathogenic/Likely pathogenic | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471397544 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS28934886 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS368568171 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS370107958 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS371582179 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS376663785 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, GM1 gangliosidosis type 3, GM1 gangliosidosis type 2 |
| RS377174858 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS397515617 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 2, GM1 gangliosidosis, Mucopolysaccharidosis |
| RS398123349 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS398123351 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS398123354 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS398123358 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, GM1 gangliosidosis, Mucopolysaccharidosis |
| RS564428355 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS72555360 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 2, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis |
| RS72555361 | Health Risk | Pathogenic/Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, GM1 gangliosidosis type 2 |
| RS72555363 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS72555390 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS72555393 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 3, Inborn genetic diseases, Mucopolysaccharidosis |
| RS746766232 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, Mucopolysaccharidosis |
| RS747709527 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS748345527 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS749980306 | Health Risk | Pathogenic/Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3 |
| RS751033858 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS752177002 | Health Risk | Pathogenic/Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis, Mucopolysaccharidosis |
| RS753965226 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS757926581 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS759633494 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS778700089 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS968221254 | Health Risk | Pathogenic/Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, Mucopolysaccharidosis |