FAAP20

Chr 1

FA core complex associated protein 20

ENSG00000162585 UniProt: Q6NZ36 OMIM: 615183

The protein is a component of the Fanconi anemia complex that recognizes ubiquitin modifications at DNA interstrand cross-links and recruits other repair factors to promote DNA repair and translesion synthesis. Mutations cause Fanconi anemia, a disorder characterized by bone marrow failure, developmental abnormalities, and cancer predisposition with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.751), reflecting its essential role in DNA repair.

OMIM ResearchSummary from RefSeq, UniProt

Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds 'Lys-63'-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.75

LOEUF

—

Mechanism

Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi