ESCO2

ESCO2 is a gene that in humans is associated with the Roberts syndrome and SC phocomelia syndrome. The gene encodes a protein, which is a member of the Eco1/Ctf7 family. This protein is necessary for the maintenance of chromosome structure and function during mitosis. It is also involved in the cohesion of sister chromatids after DNA replication.

Function

The ESCO2 gene provides instructions for making an enzyme that is involved in the process of DNA replication. This enzyme, known as establishment of cohesion 1 homolog 2 (ESCO2), helps to regulate the structure and function of chromosomes, the structures that carry genetic information.

ESCO2 is a member of the Eco1/Ctf7 family of proteins. These proteins are involved in the cohesion of sister chromatids, which are the identical copies of a chromosome that are produced during DNA replication. The cohesion of sister chromatids is essential for the accurate separation of chromosomes during cell division.

Clinical significance

Mutations in the ESCO2 gene are associated with Roberts syndrome and SC phocomelia syndrome. These are rare genetic disorders characterized by growth retardation, limb abnormalities, and other physical anomalies.

Roberts syndrome is characterized by pre- and postnatal growth retardation, severe limb abnormalities, and facial anomalies. SC phocomelia syndrome is a milder variant of Roberts syndrome, with less severe limb abnormalities and facial anomalies.

See also

• Roberts syndrome
• SC phocomelia syndrome
• Eco1/Ctf7
• DNA replication
• Cell division