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 |
|---|---|---|---|
| RS376710410 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS398123348 | Health Risk | Pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS398123350 | Health Risk | Pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS398123353 | Health Risk | Pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS398123356 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS587776524 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS587776525 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS587776526 | Health Risk | Pathogenic | GM1-gangliosidosis, type I, with cardiac involvement |
| RS587779403 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS587779404 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS72555359 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS72555364 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, Mucopolysaccharidosis |
| RS72555365 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis |
| RS72555366 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis, Mucopolysaccharidosis |
| RS72555367 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 3 |
| RS72555372 | Health Risk | Pathogenic | GM1-gangliosidosis, type I, with cardiac involvement |
| RS72555391 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS727503952 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS745386663 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS748830051 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2 |
| RS750531880 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS754131566 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS756878418 | Health Risk | Pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, Mucopolysaccharidosis |
| RS764192020 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS765230559 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS767704163 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS768691348 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS769503425 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS769781778 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS773562141 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS773868843 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS776213501 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS776327443 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS778375259 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3 |
| RS778423653 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis type 2 |
| RS780724173 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS781080459 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS781658798 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS794727249 | Health Risk | Pathogenic | — |
| RS794729217 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS1057517738 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1207569870 | Health Risk | Pathogenic/Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis, Mucopolysaccharidosis |
| RS1282958432 | Health Risk | Pathogenic/Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS1295295164 | Health Risk | Pathogenic/Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1378338444 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 2, GM1 gangliosidosis type 3, Infantile GM1 gangliosidosis |
| RS1382394474 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1452318343 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS1553606400 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1553607014 | Health Risk | Pathogenic/Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3 |
| RS1553612189 | Health Risk | Pathogenic/Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |