GBA1 wt Allele

Preferred Label : GBA1 wt Allele;

NCIt synonyms : GC; Glucosylceramidase Beta 1 wt Allele; Glucosidase, Beta; Acid (includes Glucosylceramidase) Gene; GLUC; GCB; Glucosidase, Beta, Acid Gene; GBA; Beta-Glucosidase, Acid Gene;

NCIt related terms : GBA wt Allele;

NCIt definition : Human GBA1 wild-type allele is located in the vicinity of 1q22 and is approximately 10 kb in length. This allele, which encodes lysosomal acid glucosylceramidase protein, is involved in the production of ceramides from glucosylceramides. Mutations in this gene are associated with Gaucher disease and with increased susceptibility to Lewy body dementia or late-onset Parkinson disease.;

NCIt note : Alternative splicing results in multiple transcript variants;

GenBank Accession Number : M19285;

Details

Origin ID

C104422;

UMLS CUI

C3537453;

OMIM relation
- Glucosidase, beta, acid [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q22 [NCIt concept]
gene_is_element_in_pathway
- Glycoprotein Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Biosynthetic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Negative Regulation of Inflammatory Response Process [NCIt concept]
- Post-Translational Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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