Disease-gene associations mined from literature

Literature associating ESCO1 and Osgood-Schlatter's disease

ESCO1 [ENSP00000269214]

Establishment of sister chromatid cohesion N-acetyltransferase 1; Acetyltransferase required for the establishment of sister chromatid cohesion and couple 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 S phase. Acts by mediating the acetylation of cohesin component SMC3.

Synonyms:  ESCO1,  ESCO1p,  hESCO1,  A0A024RC19,  Q5FWF5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM