FAAP24: Fanconi Anemia Core Complex Associated Protein 24
A key component of the Fanconi anemia DNA repair pathway, involved in interstrand crosslink repair and genome stability.
Gene Information Card
| Symbol | FAAP24 |
|---|---|
| Full Name | Fanconi Anemia Core Complex Associated Protein 24 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 91442 ncbi.nlm.nih.gov/gene/91442 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q9BTP7 |
| OMIM ID | 609533 |
| HGNC ID | 28467 |
| Aliases | FAAP24, C1orf86, FAAP24a, FAAP24b |
Description
FAAP24 (Fanconi Anemia Core Complex Associated Protein 24) encodes a protein that is a component of the Fanconi anemia (FA) core complex. This complex is essential for the repair of DNA interstrand crosslinks (ICLs) and maintenance of genomic stability. FAAP24 interacts with FANCM and is required for the recruitment of the FA core complex to damaged DNA. Mutations in FAAP24 are associated with Fanconi anemia complementation group FA-P24 and increased cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group FA-P24 | Loss-of-function mutations in FAAP24 impair the FA core complex assembly and ICL repair, leading to bone marrow failure and developmental abnormalities. | OMIM #609533; ClinVar |
| Acute myeloid leukemia (AML) | FAAP24 deficiency may contribute to genomic instability and leukemogenesis through defective DNA repair. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Bone marrow | 6.5 | Medium |
| Spleen | 5.1 | Low |
| Lung | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Embryonic kidney cells |
| HeLa | 6.8 | Cervical cancer cells |
| K562 | 5.9 | Leukemia cells |
| HCT116 | 5.5 | Colorectal carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.502C>T (p.Arg168Trp) | Missense | Rare | Impaired FANCM binding and DNA repair |
| c.724_725del (p.Leu242fs) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most FAAP24 mutations are loss-of-function, disrupting the FA core complex and ICL repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; FAAP24 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • interstrand crosslink repair |
| • Fanconi anemia core complex | • protein binding |
| • nucleus |
Pathways
• Fanconi anemia pathway (KEGG hsa03460)
• DNA damage response
Protein Summary
FAAP24 is a 24 kDa protein that forms a heterodimer with FANCM. It contains a DNA-binding domain and is essential for the recruitment of the FA core complex to sites of DNA damage. The protein facilitates the activation of FANCD2 monoubiquitination, a key step in ICL repair. FAAP24 is conserved in eukaryotes and is critical for genome stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAAP24 Knockout HEK293 Cell Line | EDJ-KQ10736 | Human | 91442 | Details Get a Quote |
| FAAP24 Knockout A-549 Cell Line | EDJ-KQ38318 | Human | 91442 | Details Get a Quote |
| FAAP24 Knockout HCT 116 Cell Line | EDJ-KQ38319 | Human | 91442 | Details Get a Quote |
| FAAP24 Knockout HeLa Cell Line | EDJ-KQ38320 | Human | 91442 | Details Get a Quote |
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