ESCO1

ESCO1 (Establishment of Sister Chromatid Cohesion N-Acetyltransferase 1) is a protein that in humans is encoded by the ESCO1 gene. This protein is a member of the acetyltransferase family and is necessary for the establishment of sister chromatid cohesion.

Function

ESCO1 is an enzyme that functions as an acetyltransferase, which is a type of enzyme that transfers an acetyl group from one molecule to another. In the case of ESCO1, it is responsible for the acetylation of the SMC3 protein, a process that is crucial for the establishment of sister chromatid cohesion. This cohesion is essential for the proper segregation of chromosomes during cell division.

Clinical significance

Mutations in the ESCO1 gene have been associated with Roberts syndrome, a rare genetic disorder characterized by growth retardation, limb abnormalities, and facial anomalies. Additionally, research has suggested a potential role for ESCO1 in the development of certain types of cancer, as alterations in sister chromatid cohesion can lead to chromosomal instability, a common feature in many cancers.

See also

• ESCO2
• Acetyltransferase
• Roberts syndrome
• Cell division
• Chromosome

References

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