Aliases for C17orf70 Gene
External Ids for C17orf70 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 C17orf70 Gene
C17orf70 (Chromosome 17 Open Reading Frame 70) is a Protein Coding gene. Diseases associated with C17orf70 include fanconi anemia, complementation group m. Among its related pathways are DNA Repair and Fanconi anemia pathway (KEGG).
UniProtKB/Swiss-Prot for C17orf70 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.