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 |
|---|---|---|---|
| RS1699008262 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1699088102 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1699765928 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS1803200 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS202007119 | Health Risk | Pathogenic | GM1 gangliosidosis type 3, Mucopolysaccharidosis, MPS-IV-B |
| RS2125463197 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125463278 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125463301 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125463306 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125467060 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125469871 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125469935 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125514041 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125533127 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2125543662 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125547910 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2125548643 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2125548832 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS2125548844 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2125548861 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2125591475 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis |
| RS2125591484 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, Mucopolysaccharidosis |
| RS2471247835 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471247981 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471248188 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471248603 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471248619 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471249103 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471255691 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471255806 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471255841 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471261045 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471261296 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471270710 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471270755 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471271015 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471354479 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471375093 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471375206 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471380476 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471397419 | Health Risk | Pathogenic | GM1 gangliosidosis, GM1 gangliosidosis |
| RS2471397756 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471398259 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471398274 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471424350 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471424354 | Health Risk | Pathogenic | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2471424690 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471437813 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS2471539319 | Health Risk | Pathogenic | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS28934274 | Health Risk | Pathogenic | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |