ESCO2 : establishment of sister chromatid cohesion N-acetyltransferase 2
Description
The ESCO2 (establishment of sister chromatid cohesion N-acetyltransferase 2) is a protein-coding gene located on chromosome 8.
The ESCO2 gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The ESCO2 protein plays an important role in establishing the glue that holds the sister chromatids together until the chromosomes are ready to separate.
ESCO2 is an acetyltransferase essential for establishing sister chromatid cohesion. It ensures that only sister chromatids pair during DNA replication by linking cohesion and replication processes. Unlike structural cohesins, ESCO2 is only required during the S phase of the cell cycle. It acetylates the SMC3 component of the cohesin complex.
ESCO2 is also known as 2410004I17Rik, EFO2, EFO2p, JHS, RBS, hEFO2.
Associated Diseases
- Juberg-Hayward syndrome
- Roberts syndrome
- Cleft lip/palate with abnormal thumbs and microcephaly
- Roberts-SC phocomelia syndrome
