RPS24 wt Allele

Preferred Label : RPS24 wt Allele;

NCIt synonyms : DBA3; eS24; Ribosomal Protein S24 wt Allele; S24;

NCIt definition : Human RPS24 wild-type allele is located in the vicinity of 10q22.3 and is approximately 23 kb in length. This allele, which encodes 40S ribosomal protein S24, plays a role in 40S ribosome maturation. Mutation of the gene is associated with Diamond-blackfan anemia 3.;

NCI Metathesaurus CUI : CL1643125;

GenBank Accession Number : AB007159;

Details

Origin ID

C177145;

UMLS CUI

C5443942;

Automatic exact mappings (from CISMeF team)
- Diamond-blackfan anemia 3 [OMIM Phenotype]
- Diamond-blackfan anemia 3 [DO Concept]
- ribosomal protein S24 [ORDO Gene]
OMIM relation
- Ribosomal protein s24 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q22.3 [NCIt concept]
gene_is_element_in_pathway
- Ribosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Protein Synthesis [NCIt concept]
- RNA Binding [NCIt concept]
- Translation Initiation [NCIt concept]
- Translation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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