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 |
|---|---|---|---|
| RS928862880 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1057524868 | Health Risk | Likely pathogenic | — |
| RS1064794737 | Health Risk | Likely pathogenic | — |
| RS1215113920 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1280400930 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis |
| RS1303774639 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS143423935 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1553604677 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, GM1 gangliosidosis type 2 |
| RS1553606091 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, GM1 gangliosidosis type 2 |
| RS1553606130 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis |
| RS1553610553 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS1553611016 | Health Risk | Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1553611040 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis |
| RS1553611044 | Health Risk | Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1553611055 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS1553611778 | Health Risk | Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1553611789 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, GM1 gangliosidosis type 2 |
| RS1553612143 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS1553612213 | Health Risk | Likely pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS1559401406 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS1575451526 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS1575471281 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS1575472038 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, Mucopolysaccharidosis |
| RS1696345066 | Health Risk | Likely pathogenic | GM1 gangliosidosis, GM1 gangliosidosis |
| RS1697138071 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1697255114 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1697334156 | Health Risk | Likely pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS1698735097 | Health Risk | Likely pathogenic | — |
| RS1699001242 | Health Risk | Likely pathogenic | — |
| RS1699002261 | Health Risk | Likely pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS1699086565 | Health Risk | Likely pathogenic | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS1699766499 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS199694629 | Health Risk | Likely pathogenic | — |
| RS2125442981 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125466937 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS2125543580 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2125548864 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS2471199391 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471248129 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471248154 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471255852 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3 |
| RS2471270873 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471279230 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS2471354173 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471354329 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3 |
| RS2471374147 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471374173 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471374263 | Health Risk | Likely pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471375071 | Health Risk | Likely pathogenic | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, GM1 gangliosidosis type 2 |
| RS2471424489 | Health Risk | Likely pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |