Lysosomal Acid Glucosylceramidase

Preferred Label : Lysosomal Acid Glucosylceramidase;

NCIt synonyms : Beta-Glucocerebrosidase; Acid Beta-Glucosidase; Alglucerase; Lysosomal Glucocerebrosidase; Glucosylceramidase Beta; EC 3.2.1.45; Imiglucerase; D-Glucosyl-N-Acylsphingosine Glucohydrolase; GBA; Lysosomal Glycosylceramidase; Glucosylceramidase; Lysosomal Cholesterol Glycosyltransferase; Cholesterol Glucosyltransferase; Cholesteryl-Beta-Glucosidase; Beta-Glucosylceramidase 1; SGTase; Lysosomal Galactosylceramidase; Lysosomal Acid GCase; Glucocerebrosidase; Beta-GC; Glucosylceramidase Beta 1; GBA1;

NCIt definition : Lysosomal acid glucosylceramidase (536 aa, 60 kDa) is encoded by the human GBA1 gene. This protein plays a role in the hydrolysis of glucosylceramides yielding free ceramide.;

NCIt note : Lysosomal acid glucosylceramidase also has cholesterol glucosyltransferase 1 (EC 2.4.1.-) and lysosomal galactosylceramidase (EC 3.2.1.46) activity.;

NCI Metathesaurus CUI : CL1375381;

Details

Origin ID

C104423;

UMLS CUI

C5197599;

Automatic exact mappings (from CISMeF team)
- Alglucerase [ICHI extension code]
- Glucosidase, beta, acid [OMIM gene]
- Imiglucerase [ICD-11 Extension code]
- imiglucerase [Substance BNPC]
Currated CISMeF NLP mapping
- Acid beta glucosidase [OBSOLETE LOINC component]
- Glucosylceramidase [LOINC component]
- Glucosylceramidase (substance) [SNOMED CT concept]
- glucosylceramidase [MeSH Descriptor]
- glucosylceramidase [SNOMED Notion]
- glucosylceramidase [MeSH concept]
OMIM relation
- Glucosidase, beta, acid [OMIM gene]
See also inter- (CISMeF)
- Glucosidase, beta, acid [OMIM gene]
- Product containing alglucerase (medicinal product) [SNOMED CT concept]
- alglucerase [ATC Code]
- glucosylceramidase beta 1 [ORDO Gene]
- imiglucerase [ATC Code]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- Acid beta glucosidase [OBSOLETE LOINC component]
- GBA protein, human [MeSH Supplementary Concept]
- Glucosylceramidase [LOINC component]
- Glucosylceramidase (substance) [SNOMED CT concept]
- glucosylceramidase [MeSH Descriptor]
- glucosylceramidase [SNOMED Notion]
- glucosylceramidase [MeSH concept]
Validated automatic mappings to BTNT
- Alglucerase [ICD-11 Extension code]
- Alglucerase (substance) [SNOMED CT concept]
- Imiglucerase (substance) [SNOMED CT concept]
- alglucerase [MeSH concept]
- alglucerase [MeSH Supplementary Concept]
- imiglucerase [MeSH concept]
- imiglucerase [MeSH Supplementary Concept]
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]
- GBA1 Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Membrane of the Lysosome [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Glycoprotein Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_product_plays_role_in_biological_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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