Aliases for FAAP100 Gene
- Fanconi Anemia Core Complex Associated Protein 100 2 3 5
- Fanconi Anemia-Associated Protein Of 100 KDa 3 4
- Fanconi Anemia-Associated Protein, 100kDa 2 3
- C17orf70 3 4
- Fanconi Anemia Core Complex-Associated Protein 100 3
- Fanconi Anemia Associated Protein 100 KDa Subunit 3
- Fanconi Anemia Core Complex 100 KDa Subunit 3
- Chromosome 17 Open Reading Frame 70 2
External Ids for FAAP100 Gene
Previous HGNC Symbols for FAAP100 Gene
FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]
GeneCards Summary for FAAP100 Gene
FAAP100 (Fanconi Anemia Core Complex Associated Protein 100) is a Protein Coding gene. Diseases associated with FAAP100 include Congenital Hypoplastic Anemia and Fanconi Anemia, Complementation Group A. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair.
UniProtKB/Swiss-Prot for FAAP100 Gene
Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed.