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 |
|---|---|---|---|
| RS2471424609 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, GM1 gangliosidosis type 2 |
| RS2471424667 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, GM1 gangliosidosis type 2 |
| RS2471449105 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3 |
| RS2471449387 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471449415 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471449428 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471449533 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS2471449819 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS375582374 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis, Mucopolysaccharidosis |
| RS376034559 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS397515616 | Health Risk | Likely pathogenic | GM1 gangliosidosis type 2, Inborn genetic diseases, GM1 gangliosidosis |
| RS398123347 | Health Risk | Likely pathogenic | — |
| RS72555362 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis |
| RS72555368 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3 |
| RS72555370 | Health Risk | Likely pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis |
| RS72555371 | Health Risk | Likely pathogenic | GM1-gangliosidosis, type I, with cardiac involvement |
| RS72555373 | Health Risk | Likely pathogenic | GM1-gangliosidosis, type I, with cardiac involvement |
| RS727503954 | Health Risk | Likely pathogenic | — |
| RS745864233 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3 |
| RS746883447 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS749020375 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS756575833 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS757256051 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS778340733 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS779023917 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS780109160 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GLB1-related disorder, Infantile GM1 gangliosidosis |
| RS780523881 | Health Risk | Likely pathogenic | Inborn genetic diseases, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis |
| RS780634117 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS794726886 | Health Risk | Likely pathogenic | — |
| RS886042079 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS977975596 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3 |
| RS1022476871 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3 |
| RS1041204916 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS1304277420 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3 |
| RS1407133452 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, GM1 gangliosidosis type 2 |
| RS1464136979 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1553606128 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1553606984 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1553610382 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS1553611025 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS1553612145 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1553612150 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1559385898 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1575410340 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1575414831 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS1575459735 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1575475703 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1697143129 | Health Risk | Pathogenic | — |
| RS1697338499 | Health Risk | Pathogenic | GM1 gangliosidosis, GM1 gangliosidosis |
| RS1698734900 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |