KEGG VARIANT: 157570v1

VARIANT: 157570v1

Entry

157570v1                      Variant

Name

ESCO2 mutation

Gene

ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 [KO:K11268]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 609353

Network

nt06512 Chromosome cohesion and segregation

Disease

Roberts-SC phocomelia syndrome

Juberg-Hayward syndrome

Reference

Authors

Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H

Title

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

Journal

Nat Genet 37:468-70 (2005)
DOI:10.1038/ng1548

Reference

Authors

Kantaputra PN, Dejkhamron P, Tongsima S, Ngamphiw C, Intachai W, Ngiwsara L, Sawangareetrakul P, Svasti J, Olsen B, Cairns JRK, Bumroongkit K

Title

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.

Journal

Arch Oral Biol 119:104918 (2020)
DOI:10.1016/j.archoralbio.2020.104918

LinkDB

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