DISEASES

Disease-gene associations mined from literature

Literature associating NABP2 and brachydactyly type E1

NABP2 [ENSP00000369545]

Oligonucleotide/oligosaccharide-binding fold-containing protein 2B; Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded DNA that binds to single-stranded DNA, in particular to polypyrimidines. The SOSS complex associates with DNA lesions and influences diverse endpoints in the cellular DNA damage response including cell-cycle checkpoint activation, recombinational repair and maintenance of genomic stability. Required for efficient homologous recombination-dependent repair of double-strand breaks (DSBs) and ATM-dependent signaling pathways; Belongs to the SOSS-B family. SOSS-B1 subfamily.

Synonyms:  NABP2,  NABP2p,  hNABP2,  A0A024RB89,  C9JMP5 ...

Linkouts:  STRING  Pharos  UniProt