Statements (113)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:associated_with |
gptkb:myelodysplastic_syndromes
gptkb:healthcare_organization gptkb:fandom gptkb:municipality public health initiatives research funding cardiovascular issues increased cancer risk genetic predisposition cellular senescence chromosomal instability immune system dysfunction genetic counseling chronic health conditions biobanks gene expression regulation developmental delays genome-wide association studies patient support groups solid tumors neurodevelopmental disorders fertility issues epigenetic regulation protein interactions endocrine disorders increased oxidative stress molecular mechanisms aplastic anemia pulmonary complications psychosocial challenges gastrointestinal problems secondary malignancies cellular localization renal abnormalities quality of life impacts hypersensitivity to DNA cross-linking agents age-related complications hepatobiliary issues impaired DNA repair mechanisms musculoskeletal abnormalities |
| gptkbp:clinical_trial |
ongoing
important for genetic testing |
| gptkbp:code |
FANCA protein
|
| gptkbp:collaborations |
international studies
|
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:discovered_by |
researchers in the 1990s
|
| gptkbp:field_of_study |
medical genetics
|
| gptkbp:function |
DNA repair
|
| gptkbp:genetic_diversity |
deletion
deletions insertion point mutation insertions short stature missense mutations nonsense mutations bone marrow failure congenital abnormalities causes Fanconi anemia hypoplastic anemia increased sensitivity to DNA cross-linking agents multiple known alleles skin pigmentation changes |
| https://www.w3.org/2000/01/rdf-schema#label |
FANCA gene
|
| gptkbp:intelligence |
Fanca in mice
|
| gptkbp:interacts_with |
interacts with other Fanconi anemia proteins
|
| gptkbp:is_a_route_for |
metabolism
apoptosis cell differentiation cell proliferation cellular homeostasis immune response signal transduction cellular senescence cellular response to DNA damage DNA repair pathway Fanconi anemia pathway |
| gptkbp:is_involved_in |
cell cycle regulation
|
| gptkbp:is_recognized_by |
healthy individuals
Fanconi anemia patients |
| gptkbp:is_represented_in |
in various tissues
|
| gptkbp:is_tested_for |
genetic testing
available for mutations |
| gptkbp:located_in |
gptkb:human_chromosome_16
chromosome 16 |
| gptkbp:nutritional_value |
FANCA protein
|
| gptkbp:population_trend |
rare
|
| gptkbp:promoter |
gptkb:FANCA
FANCA family |
| gptkbp:related_to |
DNA cross-link repair
|
| gptkbp:research_areas |
gptkb:physicist
genetic counseling molecular genetics gene therapy research bone marrow transplant cancer genetics clinical genetics |
| gptkbp:research_focus |
gptkb:physicist
gene function treatment options mutation effects |
| gptkbp:role |
cell cycle regulation
|
| gptkbp:scientific_name |
Fanconi anemia group A protein
|
| gptkbp:seed_dispersal |
16q24.3
|
| gptkbp:social_responsibility |
gptkb:physicist
gptkb:Fanconi_anemia_type_A |
| gptkbp:symptoms |
increased cancer risk
short stature skeletal abnormalities bone marrow failure |
| gptkbp:type |
protein-coding gene
|
| gptkbp:year_created |
gptkb:1996
|