UVSSA wt Allele

Preferred Label : UVSSA wt Allele;

NCIt synonyms : UV Stimulated Scaffold Protein A wt Allele; KIAA1530; UVSS3;

NCIt definition : Human UVSSA wild-type allele is located in the vicinity of 4p16.3 and is approximately 42 kb in length. This allele, which encodes UV-stimulated scaffold protein A, plays a role in both transcription-coupled nucleotide excision repair and protein ubiquitination. Mutation of the gene is associated with UV-sensitive syndrome 3.;

NCI Metathesaurus CUI : CL1407297;

GenBank Accession Number : BC021930;

Détails

Origin ID

C173239;

UMLS CUI

C5401285;

Automatic exact mappings (from CISMeF team)
- Uv-sensitive syndrome 3 [OMIM Phenotype]
- Uv-stimulated scaffold protein a [OMIM gene]
OMIM relation
- Uv-stimulated scaffold protein a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4p16.3 [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]
- Ubiquitination [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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