Medical Knowledge Cockpit cockayne syndrome, type b

ERCC6

• Cockayne Syndrome Group B Protein Stimulates Repair of Formamidopyrimidines by NEIL1 DNA Glycosylase

 

ERCC6

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encodedprotein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins,and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockaynesyndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occursbetween this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that sharessequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544.(provided by RefSeq, Mar 2013)

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair

The encodedprotein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins,and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockaynesyndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occursbetween this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that sharessequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544.(provided by RefSeq, Mar 2013)