Dynamics of Fanconi anemia protein D2 in association with nuclear lipid droplet formation.

ABSTRACT: Fanconi anemia is a rare genetic disease caused by the loss of function of one of the 23 associated genes and is characterized by bone marrow failure, cancer predisposition and developmental defects. The proteins encoded by these genes (FANC proteins) mainly function in DNA damage response and repair. Although FANC deficiency has multiple effects on the regulation of lipid metabolism, the molecular function of FANC proteins in the context of Fanconi anemia pathology remains unclear. In the present study, we demonstrate that FANCD2, a key component of FANC proteins, interacts with factors involved in fatty acid biosynthesis or sphingolipid metabolism and that FANCD2 deficiency downregulates the cellular levels of fatty acids. Moreover, a portion of FANCD2 is localized to nuclear lipid dropl

SUBMITTER: Hotani T 

PROVIDER: S-EPMC12669972 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature