Disease-gene associations mined from literature

Literature associating C7orf49 and hereditary desmoid disease

C7orf49 [ENSP00000376823]

Cell cycle regulator of non-homologous end joining; Isoform 1: Cell-cycle-specific inhibitor of classical non-homologous end joining (NHEJ) of DNA double-strand break (DSB) repair during the S and G2 phases. Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present. Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that favors homologous recombination. Acts via interaction with XRCC5/Ku80 and XRCC6/Ku70, interaction restricted during the S and G2 phases only. Molecular mechanisms governing classical NHEJ inhibition via interaction with XRCC5/Ku80 and XRCC6/Ku70 are unknown. May act as a regulator of proteasome (By similarity).

Synonyms:  C7orf49,  C7orf49p,  hC7orf49,  A0A024R780,  C9JKC7 ...

Linkouts:  STRING  Pharos  UniProt