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.

Feb 14, 2002 · Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy.

Dec 25, 2024 · FANCA (FA Complementation Group A) is a Protein Coding gene. Diseases associated with FANCA include Fanconi Anemia, Complementation Group A and Pituitary Stalk Interruption Syndrome. Among its related pathways are Antiviral mechanism by IFN-stimulated genes and Homologous DNA Pairing and Strand Exchange.

Apr 7, 2011 · Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles.

Mar 15, 2021 · Fanconi anaemia (FA) is the most frequent inherited bone marrow failure syndrome, due to mutations in genes encoding proteins involved in replication fork protection, DNA interstrand crosslink...

Fanconi anemia is a condition that is characterized by bone marrow failure, physical differences, organ problems, and an increased risk of certain cancers. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow …

Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer.

Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two-thirds of FA families harbor mutations in FANCA. To genotype patients in the International Fanconi Anemia Registry (IFAR) we ...

Fanconi anemia, complementation group A (FANCA) is a gene that encodes a protein that is a member of the Fanconi anemia complementation group.

Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair.