ESCO2

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The ESCO2 gene is located on the short (p) arm of chromosome 8 at position 21.1.

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.[1][2][3]

Function

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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.[1]

Clinical significance

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Mutations in the ESCO2 gene are associated with Roberts syndrome.[4]

See also

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References

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Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.