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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD