Alt. symbols: FACE | FAE

Approved name: FA complementation group E
Alt. names: Fanconi anemia complementation group E

Location: 6p21.31: 35452338 - 35467104 (+)
Gene type: protein_coding, 8 transcripts.

Scores: LoFtool: 0.818000 | pLI: 0.00313890 | LOEUF: 0.892

HGNC: 3586

NCBI: 2178, RefSeq: NG_011708.1

Ensembl: ENSG00000112039.6

LRG_498 | Status: public

OMIM: 613976

Expression | ProteinAtlas

This gene encodes the FANCE protein, which is one of the 8 proteins that form the Fanconi anemia (FA) core complex. The FA core complex, together with two additional proteins called Fanconi anemia-associated proteins (FAAPs), activates two proteins, called FANCD2 and FANCI, by a monoubiquitination process. The FA complex functions in DNA cross-links repair. FANCE is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. A nuclear complex containing FANCE protein (as well as FANCC, FANCF and FANCG) is essential for the activation of the FANCD2 protein to the mono-ubiquitinated isoform. All members of the Fanconi anemia complementation group do not share sequence similarity; they are related because they assemble together into the FA protein complex.

Biallelic loss-of-function mutations in this gene cause Fanconi anemia complementation group E (FANCE) [MIM:600901]: An inherited recessive disorder affecting the bone marrow that results in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, increased chromosome instability and defec tive DNA repair. [Load More]