Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the FANCA gene. [5] It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a ...

Mar 30, 2025 · 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.

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.

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.

FANCM was proposed in 2005 to operate as an FA core complex gene and was associated with an FA phenotype in a family with affected siblings [86]. Biallelic FANCA PVs were later identified in the affected siblings, raising the question of FANCM as a canonical FANC gene [87].

May 5, 2016 · In 2003, 7 genes were identified as part of the Fanconi anaemia pathway; this set expanded to 13 genes in 2007, and, with the recently discovered genes RAD51C (also known as FANCO), SLX4, ERCC4...

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 ...

FANCA is an inclusion criterion in 1 clinical trial for diffuse large B-cell lymphoma, of which 1 is open and 0 are closed. Of the trial that contains FANCA status and diffuse large B-cell lymphoma as inclusion criteria, 1 is phase 1 (1 open) [

miR-503 gene is methylated in non-small cell lung cancer cells. miR-503 targets a homologous DNA region in the 3'-UTR region of the Fanconi anemia complementation group A protein (FANCA) gene and represses its expression at the transcriptional level. FANCA and FANCG are the major Fanconi anemia genes in the Korean population.

FANCA is a component of the Fanconi anemia (FA) core complex that activates DNA interstrand crosslink repair by monoubiquitination of FANCD2.