N-acetyltransferase ESCO2; establishment of cohesion 1 homolog 2; ECO1 homolog 2 (ESCO2)

Function

• acetyltransferase
• sister chromatid cohesion
• coupling of cohesion & DNA replication
  • sister chromatid pairing
• may function during S phase

Expression

• widely expressed in fetal tissues
• in adult, expressed in thymus, placenta, small intestine

Pathology

• defects in ESCO2 are the cause of:
  • Roberts syndrome
  • SC phocomelia syndrome

More general terms

• acetyltransferase
• zinc finger protein
• nuclear protein
• phosphoprotein

Additional terms

• Roberts syndrome (RBS)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=157570
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:157570
• OMIM: https://mirror.omim.org/entry/268300
• OMIM: https://mirror.omim.org/entry/269000
• OMIM: https://mirror.omim.org/entry/609353
• UniProt: http://www.uniprot.org/uniprot/Q56NI9.html