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 |
|---|---|---|---|
| RS111840209 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS113534264 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1165249729 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS1172435886 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1198846361 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS1244404381 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1350583798 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS139730198 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1408171481 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, GLB1-related disorder, GM1 gangliosidosis |
| RS145674318 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS1575451599 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS1696330609 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS1699791081 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS1803198 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS180869784 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS191203702 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS199538100 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS199927127 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS200050465 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS200181401 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS200762972 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS201148460 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS201903758 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS202237232 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS2125463133 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS2125523018 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS368796666 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS368944274 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS369789589 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS371397760 | Health Risk | Conflicting classifications of pathogenicity | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2, Mucopolysaccharidosis |
| RS371546950 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS398123355 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS398123357 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis type 3, GM1 gangliosidosis type 2, Mucopolysaccharidosis |
| RS529551028 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS572237881 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3 |
| RS72555358 | Health Risk | Conflicting classifications of pathogenicity | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS72555369 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, Infantile GM1 gangliosidosis |
| RS72555392 | Health Risk | Conflicting classifications of pathogenicity | Infantile GM1 gangliosidosis, GM1-gangliosidosis, type I |
| RS747812191 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS753129246 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS754077128 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis type 2, Mucopolysaccharidosis, MPS-IV-B |
| RS756403702 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS757982518 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS759483184 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS770982909 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS774732235 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS77988381 | Health Risk | Conflicting classifications of pathogenicity | Mucopolysaccharidosis, MPS-IV-B, GM1 gangliosidosis |
| RS780232995 | Health Risk | Conflicting classifications of pathogenicity | Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS781267265 | Health Risk | Conflicting classifications of pathogenicity | GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |
| RS794727165 | Health Risk | Conflicting classifications of pathogenicity | Infantile GM1 gangliosidosis, Mucopolysaccharidosis, MPS-IV-B |