GUSB wt Allele

Preferred Label : GUSB wt Allele;

NCIt synonyms : GUS; BG; MPS7; Glucuronidase Beta wt Allele; Glucuronidase, Beta Gene;

NCIt definition : Human GUSB wild-type allele is located in the vicinity of 7q11.21 and is approximately 22 kb in length. This allele, which encodes beta-glucuronidase protein, plays a role in the metabolism of glycosaminoglycans. Mutation of the gene is associated with mucopolysaccharidosis VII.;

NCI Metathesaurus CUI : CL545843;

GenBank Accession Number : M15182;

Details

Origin ID

C148005;

UMLS CUI

C4553636;

Automatic exact mappings (from CISMeF team)
- Acyl-coa synthetase, bubblegum family, member 1 [OMIM gene]
- Apolipoprotein h [OMIM gene]
- Beta glucuronidase [LOINC component]
- Mucopolysaccharidosis type 7 [ORDO Disease]
- Mucopolysaccharidosis, type VII [OMIM Phenotype]
- Sly mucopolysaccharidosis [PASCAL descriptor]
OMIM relation
- Beta-glucuronidase [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_involved_in_pathogenesis_of_disease
- Sly Syndrome [NCIt concept]
gene_is_element_in_pathway
- Drug Metabolism by Non-CYP450 Enzymes Pathway [NCIt concept]
- Glycosaminoglycan Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
- Pentose and Glucuronate Interconversions Pathway [NCIt concept]
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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