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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAAP24
FA core complex associated protein 24
Chromosome 19 · 19q13.11
NCBI Gene: 91442Ensembl: ENSG00000131944.11HGNC: HGNC:28467UniProt: A0A0S2Z5V6
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Fanconi anaemia nuclear complexprotein bindinginterstrand cross-link repairchromatinVitiligoacute myeloid leukemiagoutcancer
✦AI Summary

FAAP24 (FA core complex associated protein 24) functions as a critical DNA repair protein that works in partnership with FANCM to maintain genome stability. Primary Function: FAAP24 serves as a DNA-binding partner of FANCM that recruits the FA core complex to sites of DNA damage, particularly at branched DNA structures and single-stranded DNA 1. The protein plays a central role in the Fanconi anemia (FA) pathway, where it facilitates monoubiquitination of FANCD2-FANCI upon DNA damage 2. Mechanism: FAAP24 operates through two distinct mechanisms: it cooperatively activates FA pathway signaling with FANCM and independently promotes ATR-mediated checkpoint activation in response to DNA crosslinking agents 3. The FANCM-FAAP24 complex remodels stalled replication forks through ATP-dependent branch migration, which is essential for activating ATR signaling 4. Disease Relevance: FAAP24 loss induces chr19 instability and hypersensitivity to DNA crosslinking agents 1. Mutations in FAAP24 have been identified in castration-resistant prostate cancer patients and colorectal cancer families with multiple primary tumors, where the protein's disruption sensitizes cells to PARP inhibitors 56. Clinical Significance: FAAP24 alterations are part of broader DDR/FA signaling network mutations affecting cancer susceptibility and therapy response across multiple tumor types 7.

Sources cited
1
FAAP24 binds FANCM's C-terminal domain and participates in branched DNA recognition and FA core complex interaction for FANCD2-FANCI monoubiquitination
PMID: 40447800
2
FAAP24 is a non-FA protein component of the FA nuclear core complex required for FANCD2-FANCI monoubiquitination upon DNA damage
PMID: 19379763
3
FAAP24 and FANCM maintain genome stability through cooperative and unique functions, with FAAP24 promoting ATR-mediated checkpoint activation particularly in response to DNA crosslinking
PMID: 23333308
4
FANCM-FAAP24 remodeling of stalled replication forks is required to facilitate efficient ATR signaling activation in response to replication stress
PMID: 19282663
5
FAAP24 loss functions as a PARP inhibitor sensitizer in prostate cancer cells and is altered in 3-6% of castration-resistant prostate cancer patients
PMID: 39718835
6
FAAP24 was identified in STRING analysis as part of a DNA repair/cell cycle protein cluster in colorectal cancer families with multiple primary tumors
PMID: 39654522
7
FAAP24 is a key player in the FA signaling network that responds to cellular insults and its mutations impact cancer patient survival and disease-free periods
PMID: 39421870
8
FAAP24 interacts with checkpoint protein HCLK2 independently of FA core complex and is required for ATR/Chk1-mediated checkpoint signaling
PMID: 18995830
Disease Associationsⓘ20
VitiligoOpen Targets
0.32Weak
acute myeloid leukemiaOpen Targets
0.07Suggestive
goutOpen Targets
0.06Suggestive
cancerOpen Targets
0.03Suggestive
preeclampsiaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
Fanconi anemiaOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
SepsisOpen Targets
0.01Suggestive
Friedreich ataxiaOpen Targets
0.01Suggestive
hypoparathyroidism-retardation-dysmorphism syndromeOpen Targets
0.01Suggestive
pancreatic adenocarcinomaOpen Targets
0.01Suggestive
leukemiaOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
bladder transitional cell carcinomaOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
microcytic anemiaOpen Targets
0.00Suggestive
mycosis fungoidesOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EXO5Shared pathway100%WDR48Protein interaction100%CENPXProtein interaction100%CENPSProtein interaction100%FANCEProtein interaction100%HES1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
59%
Ovary
34%
Lung
28%
Liver
25%
Heart
22%
Gene Interaction Network
Click a node to explore
FAAP24EXO5WDR48CENPXCENPSFANCEHES1
PROTEIN STRUCTURE
Preparing viewer…
PDB4BXO · 2.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.63–1.34]
RankingsWhere FAAP24 stands among ~20K protein-coding genes
  • #10,169of 20,598
    Most Researched40
  • #13,999of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedFAAP24
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
FANCM-FAAP24 and HCLK2: roles in ATR signalling and the Fanconi anemia pathway.
PMID: 19282663
Cell Cycle · 2009
1.00
2
Structural basis of Fanconi anemia pathway activation by FANCM.
PMID: 40447800
EMBO J · 2025
0.90
3
CRISPR/Cas9 screens identify LIG1 as a sensitizer of PARP inhibitors in castration-resistant prostate cancer.
PMID: 39718835
J Clin Invest · 2024
0.80
4
Somatic gene mutations involved in DNA damage response/Fanconi anemia signaling are tissue- and cell-type specific in human solid tumors.
PMID: 39421870
Front Med (Lausanne) · 2024
0.70
5
FANCM-FAAP24 and FANCJ: FA proteins that metabolize DNA.
PMID: 19379763
Mutat Res · 2009
0.60