ASL wt Allele - CISMeF

Preferred Label : ASL wt Allele;

NCIt synonyms : ASAL; Argininosuccinate Lyase wt Allele;

NCIt definition : Human ASL wild-type allele is located in the vicinity of 7q11.21 and is approximately 19 kb in length. This allele, which encodes argininosuccinate lyase protein, plays a role in ammonia metabolism. Mutation of the gene is associated with argininosuccinic aciduria.;

NCI Metathesaurus CUI : CL1912938;

GenBank Accession Number : NM_000048;

Details

Origin ID

C192690;

UMLS CUI

C5780745;

OMIM relation
- Argininosuccinate lyase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Detoxification [NCIt concept]

Keyword's position in hierarchy(ies) :

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