Non-Lysosomal Glucosylceramidase

Preferred Label : Non-Lysosomal Glucosylceramidase;

NCIt synonyms : Beta-Glucosidase 2; Bile Acid Beta-Glucosidase; NLGase; Beta-Glucocerebrosidase 2; EC 3.2.1.45; Glucosylceramidase 2; GBA2;

NCIt definition : Non-lysosomal glucosylceramidase (927, 105 kDa) is encoded by the human GBA2 gene. This protein plays a role in the generation and prevention of glycolipid accumulation.;

Details

Origin ID

C104426;

UMLS CUI

C3539583;

OMIM relation
- Glucosidase, beta, acid 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- GBA2 Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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