Primary Identifier | IPR013020 | Type | Family |
Short Name | Rad3/Chl1-like |
description | This entry includes a group of ATP-dependent helicases, including Rad3/XPD (ERCC2), Chl1/DDX11, DDX12, RTEL1 and BRIP1. Rad3/XPD is a subunit of RNA polII initiation factor TFIIH and of Nucleotide Excision Repair Factor 3 (NEF3) [, ]. DDX11/Chl1 is required for sister-chromatid cohesion [, , ]. Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS). It is a syndrome characterised by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation []. |