Information on FAAP24
Basic details
Alt. symbols: C19orf40 | FLJ46828 | MGC32020
Approved name: FA core complex associated protein 24
Alt. names: chromosome 19 open reading frame 40, Fanconi anemia core complex associated protein 24 | Fanconi anemia-associated protein, 24kDa
Location: 19q13.11: 32972209 - 32978229 (+)
Gene type: protein_coding, 9 transcripts.
Scores: LoFtool: 0.713000 | pLI: 0.00002662 | LOEUF: 1.811
Normal function
Dysfunction and disease
The Fanconi anemia-associated protein 24 (FAAP24) plays a dual role in DNA repair. By association with FANCM as component of the FA core complex, it recruits the FA core complex to damaged DNA. Additionally, FAAP24 has been shown to evoke ATR-mediated checkpoint responses independently of the FA core complex. By whole exome sequencing, homozygous missense mutation in the FAAP24 gene (cC635T, pT212M) in two siblings of a consanguineous Turkish family who died from an EBV-associated lymphoprolifer ative disease have been described (Daschkey (2016) J Clin Immunol 36: 684 PubMed: 27473539). [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FHL6 |
Hemophagocytic lymphohistiocytosis, familial, 6 | AR |
- | 0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of FAAP24
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000590179.1 | CCDS74327 | protein_coding | 3 | No | 784 | NM_001300978 | ||
| 202 | ENST00000588258.6 | CCDS12426 | Select | protein_coding | 5 | Yes | 2313 | NM_152266 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in FAAP24
| ID | Year | Title | Journal | PMID | Variants |
|---|