Fanconi anemia group E protein; protein FANCE (FANCE)

Function

• required for nuclear accumulation of FANCC
• role in bridge of FA complex with FANCD2
• component of FA complex
• interacts with FANCC & FANCD2

Compartment

nucleus

Pathology

• defects in FANCE are a cause of Fanconi anemia

More general terms

• nuclear protein
• protein subunit
• phosphoprotein

Additional terms

• Fanconi anemia

Component of

• Fanconi anemia complementation group complex (FA complex)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2178
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2178
• OMIM: https://mirror.omim.org/entry/227650
• OMIM: https://mirror.omim.org/entry/600901
• UniProt: http://www.uniprot.org/uniprot/Q9HB96.html