XPC wt Allele - CISMeF

Preferred Label : XPC wt Allele;

NCIt synonyms : Xeroderma Pigmentosum, Complementation Group C Gene; XPCC; XP3; RAD4; RAD4, Yeast, Homolog of Gene; XPC Complex Subunit, DNA Damage Recognition and Repair Factor wt Allele;

NCIt definition : Human XPC wild-type allele is located in the vicinity of 3p25 and is approximately 34 kb in length. This allele, which encodes DNA repair protein complementing XP-C cells protein, plays a role in the regulation of nucleotide excision repair. Mutation of the gene is associated with xeroderma pigmentosum complementation group C.;

GenBank Accession Number : NM_001145769;

Details

Origin ID

C97871;

UMLS CUI

C3273669;

Automatic exact mappings (from CISMeF team)
- XPC complex subunit, DNA damage recognition and repair factor [ORDO Gene]
- Xeroderma pigmentosum, Complementation group C [OMIM Phenotype]
- Xpc complex subunit, dna damage recognition and repair factor [OMIM gene]
- xeroderma pigmentosum group C [DO Concept]
- xeroderma pigmentosum, complementation group C [MeSH Supplementary Concept]
OMIM relation
- Xpc complex subunit, dna damage recognition and repair factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p25 [NCIt concept]
gene_is_element_in_pathway
- Nucleotide Excision Repair Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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