ARSA wt Allele

Preferred Label : ARSA wt Allele;

NCIt synonyms : Arylsulfatase A wt Allele; Metachromatic Leucodystrophy Gene; MLD; Metachromatic Leukodystrophy Gene;

NCIt definition : Human ARSA wild-type allele is located in the vicinity of 22q13.33 and is approximately 3 kb in length. This allele, which encodes arylsulfatase A protein, plays a role in the catabolism of cerebroside sulfate. Mutation of the gene is associated with leukodystrophy metachromatic.;

GenBank Accession Number : X52150;

Details

Origin ID

C103931;

UMLS CUI

C3539689;

OMIM relation
- Arylsulfatase a [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
- 22q13.33 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Phospholipid Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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