Ontology highlight
ABSTRACT:
SUBMITTER: Jeong E
PROVIDER: S-EPMC7102982 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Jeong Eunyoung E Lee Seong-Gyu SG Kim Hyun-Suk HS Yang Jihyeon J Shin Jinwoo J Kim Youngran Y Kim Jihan J Schärer Orlando D OD Kim Youngjin Y Yeo Jung-Eun JE Kim Ho Min HM Cho Yunje Y
Nucleic acids research 20200401 6
Monoubiquitination of the Fanconi anemia complementation group D2 (FANCD2) protein by the FA core ubiquitin ligase complex is the central event in the FA pathway. FANCA and FANCG play major roles in the nuclear localization of the FA core complex. Mutations of these two genes are the most frequently observed genetic alterations in FA patients, and most point mutations in FANCA are clustered in the C-terminal domain (CTD). To understand the basis of the FA-associated FANCA mutations, we determine ...[more]