Literature associating ERCC6 and hypomyelinating leukodystrophy 9
Excision repair cross-complementation group 6; Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II- blocking lesions; Belongs to the SNF2/RAD54 helicase family.
Synonyms: ERCC6, ERCC6p, hERCC6, D6R9X7, DKFZP781P1019 ...