Arylsulfatase A

Preferred Label : Arylsulfatase A;

NCIt synonyms : Cerebroside-Sulfatase; EC 3.1.6.8; ASA; ARSA; Cerebroside 3-Sulfatase;

NCIt definition : Arylsulfatase A (507 aa, 54 kDa) is encoded by the human ARSA gene. This protein is involved in the hydrolysis of cerebroside sulfate.;

NCIt note : The conversion of a cysteine residue in eukaryotes to 3-oxoalanine (also known as C-formylglycine, FGly), is critical for catalytic activity. (UniProt); Mutation of the SUMF1 gene results in misprocessing of arylsulfatase A and all other sulfatases leading to multiple sulfatase deficiency. (UniProt);

Détails

Origin ID

C103932;

UMLS CUI

C3853627;

Automatic exact mappings (from CISMeF team)
- Aberrant origin of right subclavian artery [ICD-11 More detail]
- Arylsulfatase [LOINC component]
- Arylsulfatase (substance) [SNOMED CT concept]
- Arylsulfatase a [OMIM gene]
- Aspirin-sensitive asthma with nasal polyps (disorder) [Inactive SNOMED CT concept]
- Autosomal recessive sideroblastic anemia [ORDO Disease]
- Cerebroside sulfatase [LOINC component]
- Cerebroside sulfatase A (substance) [SNOMED CT concept]
- Cerebroside-Sulfatase [MeSH concept]
- Cerebroside-Sulfatase [MeSH Descriptor]
- Cerebroside-sulfatase (substance) [SNOMED CT concept]
- Proximal spinal muscular atrophy [ORDO Disease]
- arylsulfatase [SNOMED Notion]
- arylsulfatase A [ORDO Gene]
- arylsulfatase A [HGNC gene]
- arylsulfatases [MeSH Descriptor]
- arylsulfatases [MeSH concept]
- aspirin [MeSH Descriptor]
- cerebroside-sulfatase [SNOMED Notion]
- nitroxy-butyl-acetylsalicylic acid [MeSH Supplementary Concept]
False automatic mappings
- Argininosuccinic aciduria [ORDO Disease]
OMIM relation
- Arylsulfatase a [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
- ARSA Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Esterase Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Lumen of the Lysosome [NCIt concept]
gene_product_has_biochemical_function
- Hydrolase [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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