Disease-gene associations mined from literature

Literature associating ESCO2 and humeroradial synostosis

ESCO2 [ENSP00000306999]

Establishment of sister chromatid cohesion N-acetyltransferase 2; Acetyltransferase required for the establishment of sister chromatid cohesion. Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3.

Synonyms:  ESCO2,  ESCO2p,  hESCO2,  E5RFE4,  E5RFP7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM