GSS wt Allele - CISMeF

Preferred Label : GSS wt Allele;

NCIt synonyms : HEL-S-88n; GSHS; Glutathione Synthetase wt Allele; HEL-S-64p;

NCIt definition : Human GSS wild-type allele is located in the vicinity of 20q11.22 and is approximately 28 kb in length. This allele, which encodes glutathione synthetase protein, plays a role in ATP-dependent synthesis of glutathione. Mutation of the gene is associated with glutathione synthetase deficiency with or without hemolytic anemia.;

NCI Metathesaurus CUI : CL1662356;

GenBank Accession Number : NM_000178;

Details

Origin ID

C179898;

UMLS CUI

C5551123;

Automatic exact mappings (from CISMeF team)
- Glutathione synthetase [OMIM gene]
OMIM relation
- Glutathione synthetase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q11.22 [NCIt concept]
gene_is_element_in_pathway
- Cysteine and Methionine Metabolism Pathway [NCIt concept]
- Glutathione Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Peptide Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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