XPA wt Allele - CISMeF

Preferred Label : XPA wt Allele;

NCIt synonyms : Xeroderma Pigmentosum, Complementation Group A wt Allele; XP1 Gene; XP, Group A Gene; XPA Correcting Gene; XPA; Xeroderma Pigmentosum I Gene; XP, Group A; XP1; XPAC; XPA Complementing Gene; XPAC Gene;

NCIt definition : Human XPA wild-type allele is located in the vicinity of 9q22.3 and is approximately 22 kb in length. This allele, which encodes DNA-repair protein complementing XP-A cells protein, is involved in the DNA excision repair pathway. Defects in this pathway lead to the clinical state of xeroderma pigmentosum.;

GenBank Accession Number : NM_000380;

Details

Origin ID

C51011;

UMLS CUI

C1705709;

OMIM relation
- Xpa, 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_associated_with_disease
- Xeroderma Pigmentosum, Complementation Group A [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q22.3 [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]
- Excision Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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