FAAP100

Chr 17q25.3

FA core complex associated protein 100

Aliases:: FLJ22175
MANE:: ENST00000327787.13

OMIM: 611301 ↗NCBI: 80233 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FAAP100 · Q0VG06

v62025-08-01

Predicted Aligned Error matrix for FAAP100 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.9/ 100

Confident

881 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)55%
Low(50–70)15%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

fanconi anemia, complementation group 10
0.58
Fanconi anemia
0.43
46,XX gonadal dysgenesis
0.07
primary ovarian failure
0.07
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.07
spermatogenic failure
0.06
Friedreich ataxia
0.06
partial chromosome Y deletion
0.06
non-syndromic male infertility due to sperm motility disorder
0.06
Isolated follicle stimulating hormone deficiency
0.06

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

Protein function (UniProt)

Fanconi anemia core complex-associated protein 100

Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed