ERCC6

AcronymDefinition
ERCC6Excision-Repair Cross-Complementing, Complementation Group 6
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References in periodicals archive ?
The reported findings included homozygous changes to the ERCC6 gene, a gene associated with Cockayne's syndrome, a rare autosomal recessive syndrome that is usually fatal in childhood.
El sindrome se origina por la mutacion de los genes ERCC8 (CKN1) (Excision-Repair Cross-Complementing, Group 8) en 25% de los casos y ERCC6 (Excision-Repair Cross-Complementing, Group 6) en el 75% de los casos, localiza-dos en los cromosomas 5 y lOqll, respectivamente; estos defectos originan un defecto en la reparation del DNA acoplada a la transcription (TC-NER) que genera dos subdivisions fisiopatologicas: CS-A para el ERCC8 y CS-B para el ERCC6.
More than 15 ns-cSNPs were detected in five genes: insulin-like growth factor receptor 2 (IGF2R) with 21 ns-cSNPs, REV3-like, catalytic subunit of DNA polymerase zeta (REV3L) with 21 ns-cSNPs, protein kinase, DNA-activated, catalytic polypeptide (PRKDC) with 20 ns-cSNPs, exonuclease 1 (EXO1) with 17 ns-cSNPs, and the excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6) with 16 ns-cSNPs.