The FANCA gene provides instructions for making a protein that is involved in a process known as the Fanconi anemia (FA) pathway. The FA pathway turns on (activates) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway works to prevent a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs are abnormal connections between two DNA building blocks (nucleotides) on opposite strands of DNA. These cross-links stop the process of DNA replication and can be caused by a buildup of toxic substances in the body or by treatment with certain cancer therapy drugs (sometimes known as DNA cross-linking agents).
The FANCA protein is one of several proteins that form a group known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCA) and two proteins called Fanconi anemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of FANCD2 and FANCI attracts DNA repair proteins to the damaged area of DNA so the cross-link can be removed and DNA replication can continue.
Other Names
FACA; FANCA_HUMAN; Fanconi anemia, complementation group A
Related Genetics Topics
Identifiers
- NCBI Gene: 2175
- OMIM: 607139
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
