ESCO2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ESCO2 wild-type allele is located in the vicinity of 8p21.1 and is approximately 48 kb in length. This allele, which encodes N-acetyltransferase ESCO2 protein, is involved in sister chromatid adhesion during S phase. Mutation of the gene is associated with Roberts-SC phocomelia syndrome and orocraniodigital (Juberg-Hayward) syndrome.

**Synonyms:** - 2410004I17Rik - CTF7, S. cerevisiae, Homolog of, 2 Gene - ECO1, S. cerevisiae, Homolog of, 2 Gene - EFO2 - EFO2p - ESO1, S. pombe, Homolog of, 2 Gene - Establishment Factor Ortholog 2 Gene - Establishment of Cohesion 1 Homolog 2 (S. cerevisiae) Gene - Establishment of Cohesion 1 Homolog, S. cerevisiae, Homolog of, 2 Gene - Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2 wt Allele - JHS - RBS - hEFO2