Gene content | ||||
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FANCG ( by HUGO) | ||||
Fanconi Anemia, Complementation Group G | ||||
Tumor suppressor gene | ||||
Fanconi Anemia Complementation Group G XRCC9 DNA Repair Protein XRCC9 X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 9 9 Complementing Defective In Chinese Hamster X-Ray Repair FAG Fanconi Anemia Group G Protein X-Ray Repair Complementing Defective In Chinese Hamster 9 Protein FACG | ||||
NCBI: 9p13 Ensembl: 9p13.3 | ||||
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Protein Domain/Family | ||||
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Source | ID | Domain | Name | Type |
InterPro | IPR001440 | TPR_1 | TPR repeat | Repeat |
IPR011990 | TPR-like_helical | Tetratricopeptide-like helical | Domain |
Gene Ontology | ||||
---|---|---|---|---|
Type | Term | Evidence | Source | Pub |
Biological Process | cell cycle checkpoint | TAS | GOA | 9256465 |
mitochondrion organization | IMP | GOA | 17060495 | |
Cellular Component | mitochondrion | IDA | GOA | 17060495 |
Molecular Function | damaged DNA binding | TAS | GOA | 9806548 |
protein binding | IPI | GOA | 10627486 |
Disorder & Mutation | ||||
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Source | Disease | |||
Genatlas | Fanconi anemia,autosomal recessive,complementation group G,characterized by progressive bone marrow failure (pancytopenia),often associated with skeletal abnormalities and an increased cancer risk and with spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents | |||
SWISS-PROT | Fanconi anemia complementation group G (FANCG) [MIM:614082]: 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 |
FANCG cross reference | ||||||||
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