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N-acetyltransferase ESCO2; establishment of cohesion 1 homolog 2; ECO1 homolog 2 (ESCO2)
Function:
1) acetyltransferase
2) sister chromatid cohesion
3) coupling of cohesion & DNA replication
- sister chromatid pairing
4) may function during S phase
Expression:
- widely expressed in fetal tissues
- in adult, expressed in thymus, placenta, small intestine
Pathology:
- defects in ESCO2 are the cause of:
a) Roberts syndrome
b) SC phocomelia syndrome
Related
Roberts syndrome (RBS)
General
acetyltransferase
nuclear protein
phosphoprotein
zinc finger protein
Properties
SIZE: entity length = 601 aa
MW = 68 kD
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S29}
Ser phosphorylation site {S75}
Ser phosphorylation site {S244}
Ser phosphorylation site {S312}
Zinc finger
NAME: Zinc finger
SITE: 387-411
EFFECTOR-BOUND: Zn+2
Ser phosphorylation site {S512}
Database Correlations
OMIM correlations
MORBIDMAP 609353
UniProt Q56NI9
Entrez Gene 157570
Kegg hsa:157570
ENZYME 2.3.1.-
References
- UniProt :accession Q56NI9
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ESCO2