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Details of FANCD2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| FANCD2 | FACD | Q9BXW9 | FACD2_HUMAN | 2177
| ENSG00000144554
| Fanconi anemia group D2 protein | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Fanconi anemia complementation group D2 (FANCD2) [MIM:227646]: A disorder affecting all bone marrow elements and resulting 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, chromosomal instability (increased chromosome breakage) and defective DNA repair. Note=The disease is caused by mutations affecting the gene represented in this entry. |
227646 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Fancd2 | Fancd2 | fcd-2 | --- |
