GLB1 galactosidase beta 1
Gene ID: 2720, updated on 5-Mar-2024Gene type: protein coding
Also known as: EBP; ELNR1; MPS4B
- See all available tests in GTR for this gene
- Go to complete Gene record for GLB1
- Go to Variation Viewer for GLB1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma. GeneReviews: Not available | |
| Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. GeneReviews: Not available | |
| GM1 gangliosidosis type 2 | See labs |
| GM1 gangliosidosis type 3 | See labs |
| Infantile GM1 gangliosidosis | See labs |
| Mucopolysaccharidosis, MPS-IV-B | See labs |
Genomic context
- Location:
- 3p22.3
- Sequence:
- Chromosome: 3; NC_000003.12 (32961108..33097146, complement)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GLB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GLB1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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