GBA1 glucosylceramidase beta 1
Gene ID: 2629, updated on 5-Jan-2025Gene type: protein coding
Also known as: GBA; GCB; GLUC
- See all available tests in GTR for this gene
- Go to complete Gene record for GBA1
- Go to Variation Viewer for GBA1 variants
Summary
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Gaucher disease MedGen: C0017205GeneReviews: Gaucher Disease | See labs |
| Gaucher disease perinatal lethal | See labs |
| Gaucher disease type I | See labs |
| Gaucher disease type II | See labs |
| Gaucher disease type III | See labs |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | See labs |
| Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. GeneReviews: Not available | |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
| Lewy body dementia | See labs |
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available | |
| Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. GeneReviews: Not available | |
| Parkinson disease, late-onset | See labs |
Genomic context
- Location:
- 1q22
- Sequence:
- Chromosome: 1; NC_000001.11 (155234452..155244627, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GBA1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.