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Vega H, et al. (2005) Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet 37(5):468-70
Abstract: Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.
| Status: Published | Type: Journal Article | PubMed ID: 15821733 |
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| Topics | Genes linked to topics |
|---|---|
| ECO1 | |
| Disease Gene Related |  |
| Non-Fungal Related Genes/Proteins | |
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