FANCM

FANCM: The Guardian of Genomic Stability

Description

FANCM (Fanconi Anemia Complementation Group M) is a gene encoding a protein involved in the maintenance of genomic stability and DNA repair. It plays a vital role in the Fanconi Anemia (FA) pathway, a complex DNA damage response mechanism that protects cells from chromosomal instability and genomic rearrangements.

FANCM protein forms a complex with FAAP24, another component of the FA pathway. Together, they coordinate the recruitment of other FA proteins and DNA repair factors to sites of DNA damage. This allows for the efficient repair of DNA interstrand crosslinks (ICLs), complex lesions that can block transcription and replication.

Associated Diseases

Mutations in the FANCM gene are associated with Fanconi Anemia, a rare genetic disorder characterized by chromosomal instability, bone marrow failure, and an increased risk of developing various types of cancer.

Did you Know ?

Only about 1 in 350,000 people worldwide is born with Fanconi Anemia. However, the incidence of FANCM mutations in the general population is estimated to be around 1 in 200. This suggests that FANCM mutations are a common genetic risk factor for hematological malignancies and solid tumors, even in individuals without a diagnosis of FA.