/Fanconi anemia complementation group E

Fanconi anemia complementation group E

Rare Disease

MONDO:0010953

Also Known As

FACEFANCEFANCE Fanconi anaemiaFANCE Fanconi anemiaFanconi Anemia, complementation group type EFanconi anaemia caused by mutation in FANCEFanconi anaemia complementation group type EFanconi anemia caused by mutation in FANCEFanconi anemia complementation group EFanconi anemia complementation group type EfaceFanconi anemia, complementation group E

Definition

Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.