FANCG wt Allele

Preferred Label : FANCG wt Allele;

NCIt synonyms : FAG Gene; XRCC9; X-Ray Repair, Complementing Defective, In Chinese Hamster, 9 Gene; Fanconi Anemia, Complementation Group G Gene; Fanconi Anemia Complementation Group G Gene; X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 9 Gene; FACG; FA Complementation Group G wt Allele;

NCIt definition : Human FANCG wild-type allele is located within 9p13 and is approximately 6 kb in length. This allele, which encodes fanconi anemia group G protein, is involved in chromosomal stability and maintenance and DNA interstrand cross-link repair. The allele also plays a putative role in post-replication repair and cell cycle checkpoints. Allelic variants are involved in Fanconi syndrome.;

GenBank Accession Number : NM_004629;

Détails

Origin ID

C50987;

UMLS CUI

C1707999;

OMIM relation
- Fancg gene [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_has_physical_location
- 9: 35070013-35063835 [NCIt concept]
gene_in_chromosomal_location
- 9p13 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fanconi Anemia, Complementation Group G [NCIt concept]
gene_is_element_in_pathway
- BARD1 Pathway [NCIt concept]
- BARD1 Signaling Pathway [NCIt concept]
- Cancer Susceptibility Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Maintenance [NCIt concept]
- DNA Repair [NCIt concept]

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