FAAP24

Chr 19q13.11

FA core complex associated protein 24

Aliases:: FLJ46828, MGC32020
MANE:: ENST00000588258.6

OMIM: 610884 ↗NCBI: 91442 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FAAP24 · Q9BTP7

v62025-08-01

Predicted Aligned Error matrix for FAAP24 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.1/ 100

Very high

215 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)11%
Low(50–70)6%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

vitiligo
0.30
acute myeloid leukemia
0.07
gout
0.05
cancer
0.04
preeclampsia
0.02
Fanconi anemia
0.01
Friedreich ataxia
0.01
anemia
0.01
anemia (phenotype)
0.01
neoplasm
0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Fanconi anemia core complex-associated protein 24

Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA