Products

Qualitative

Entrez GeneID

Protein Accession#

Gene Name

FANCD2

Gene Alias

DKFZp762A223, FA-D2, FA4, FACD, FAD, FAD2, FANCD, FLJ23826

Gene Description

Fanconi anemia, complementation group D2

Omim ID

Gene Ontology

Gene Summary

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq

Other Designations

Fanconi anemia complementation group D2|type 4 Fanconi pancytopenia