RPL26 wt Allele

Preferred Label : RPL26 wt Allele;

NCIt synonyms : L26; DBA11; Ribosomal Protein L26 wt Allele; uL24;

NCIt definition : Human RPL26 wild-type allele is located in the vicinity of 17p13.1 and is approximately 6 kb in length. This allele, which encodes 60S ribosomal protein L26, is involved in protein synthesis. Deletions in the gene resulting in a frameshift are associated with Diamond-Blackfan anemia 11.;

NCI Metathesaurus CUI : CL1643117;

GenBank Accession Number : NM_000987;

Details

Origin ID

C177130;

UMLS CUI

C5444194;

Automatic exact mappings (from CISMeF team)
- Diamond-Blackfan anemia 11 [DO Concept]
- Diamond-blackfan anemia 11 [OMIM Phenotype]
- ribosomal protein L26 [ORDO Gene]
OMIM relation
- Ribosomal protein l26 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Diamond-Blackfan Anemia 11 [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 Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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