FAAP24 Gene Summary [Human]
FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | FAAP24 |
| Official Name | FA core complex associated protein 24 [Source:HGNC Symbol;Acc:HGNC:28467] |
| Ensembl ID | ENSG00000131944 |
| Bio databases IDs | |
| Aliases | FA core complex associated protein 24, Fanconi anemia-associated protein, 24kDa |
| Synonyms | C19orf40, C230052I12Rik, FA core complex associated protein 24, Fanconi anaemia core complex associated protein 24, Fanconi anemia core complex associated protein 24, FAP24, RGD1564719 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FAAP24 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Helix-hairpin-helix domain
- FANCM pseudonuclease domain
- chromatin binding
- protein binding
- Helix-hairpin-helix motif
- nuclease domain of XPF/MUS81 family proteins
Pathways
Biological processes and signaling networks where the FAAP24 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- vitiligo
- clear-cell ovarian carcinoma
- clear cell ovarian cancer
- lymphoproliferative disorder
regulated by
- MAP3K8
- Mycobacterium tuberculosis H37Rv
role in cell
- formation
- association
- association in
- formation in
- sister chromatid exchange in
- mono-ubiquitination in
- checkpoint control in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- intracellular membrane-bounded organelle
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAAP24 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- Fanconi anaemia nuclear complex
- intracellular membrane-bounded organelle
- FANCM-MHF complex
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- chromatin binding