ESCO2

N-acetyltransferase ESCO2, also known as establishment of cohesion 1 homolog 2 or ECO1 homolog 2, is an enzyme that in humans is encoded by the ESCO2 gene.

Function

This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of the cell cycle.

Clinical significance

Mutations in the ESCO2 gene are associated with Roberts syndrome and Juberg-Hayward Syndrome.

See also Cohesin#Clinical significance Establishment of sister chromatid cohesion

References

Further reading

External links

GeneReviews/NIH/NCBI/UW entry on Roberts Syndrome