Gene: FANCA

Alternate names for this Gene: FA|FA-H|FA1|FAA|FACA|FAH|FANCH

Gene Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: FA complementation group A

Type of Gene: protein-coding

rs75570604 in FANCA gene and Cutaneous Melanoma PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs1057516430 in FANCA gene and FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) PMID 15522956 2005 DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption.

PMID 22778927 2012 Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

PMID 9371798 1997 Sequence variation in the Fanconi anemia gene FAA.

PMID 19367192 2009 Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

PMID 12444097 2002 Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

PMID 16397136 2006 Natural gene therapy in monozygotic twins with Fanconi anemia.

PMID 16084127 2005 A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

PMID 15643609 2005 Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

PMID 29098742 2018 A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

PMID 9399890 1997 Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

PMID 26136524 2015 Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

PMID 26740942 2015 Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 12697994 2002 Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction.

PMID 29093742 2017 Integrative field scale phenotyping for investigating metabolic components of water stress within a vineyard.

PMID 29269525 2018 Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

PMID 11091222 2000 Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

PMID 10521298 1999 High frequency of large intragenic deletions in the Fanconi anemia group A gene.

PMID 10807541 2000 Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

PMID 9929978 1999 Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

PMID 10094191 1999 Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

PMID 10210316 1999 A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

PMID 20435624 2010 Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 15523645 2004 Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

PMID 10090479 1999 The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.

PMID 26799702 2016 FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.

PMID 24037726 2013 Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.

PMID 11739169 2001 A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA.

PMID 21273304 2011 Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

PMID 11050007 2000 The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex.

PMID 27041517 2016 Profiling Fanconi Anemia Gene Mutations among Iranian Patients.

PMID 23973728 2013 Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 28717661 2017 A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

PMID 21659346 2011 Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

PMID 19278965 2009 Diagnosis of Fanconi anemia in patients with bone marrow failure.

PMID 25953249 2015 A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.

PMID 12955722 2003 Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.

PMID 25583207 2015 DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity.

PMID 19423727 2009 Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.

PMID 24349332 2013 Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1.

PMID 23934222 2013 Fanconi anemia signaling network regulates the spindle assembly checkpoint.

PMID 28864460 2017 A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents.

PMID 11063725 2000 The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.

PMID 17726045 2007 In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

PMID 15516848 2004 Fanconi anemia in Ashkenazi Jews.

PMID 15522956 2005 A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

PMID 16720839 2006 Evidence for subcomplexes in the Fanconi anemia pathway.

rs1060501879 in FANCA gene and Fanconi Anemia PMID 19367192 2009 Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

PMID 11739169 2001 A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA.

PMID 10090479 1999 The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.

PMID 12444097 2002 Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

PMID 15523645 2004 Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

PMID 9371798 1997 Sequence variation in the Fanconi anemia gene FAA.

PMID 26799702 2016 FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.

PMID 10094191 1999 Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

PMID 29269525 2018 Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 22778927 2012 Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

PMID 12697994 2002 Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction.

PMID 10521298 1999 High frequency of large intragenic deletions in the Fanconi anemia group A gene.

PMID 28102861 2017 Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.

PMID 29098742 2018 A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

PMID 25703136 2015 Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.

PMID 9371789 1997 Genes regulated by androgen in the rat ventral prostate.

PMID 16084127 2005 A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

PMID 21273304 2011 Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

PMID 8896564 1996 Positional cloning of the Fanconi anaemia group A gene.

PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

PMID 15643609 2005 Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

PMID 19278965 2009 Diagnosis of Fanconi anemia in patients with bone marrow failure.

PMID 1792455 1991 Leucocyte count as an alternative to ESR in general practice?

PMID 12955722 2003 Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.

PMID 9399890 1997 Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

PMID 19423727 2009 Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.

PMID 9929978 1999 Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

PMID 24349332 2013 Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1.

PMID 9711872 1998 Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.

PMID 28717661 2017 A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

PMID 23898106 2013 Investigation of FANCA mutations in Greek patients.

PMID 28423363 2017 Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.

rs12931267 in FANCA gene and Freckles PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

rs12931267 in FANCA gene and Hair Color PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs12921383 in FANCA gene and Homocysteine measurement PMID 23824729 2013 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.

rs75570604 in FANCA gene and Malignant melanoma of skin of lower limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs75570604 in FANCA gene and Malignant melanoma of skin of upper limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs12931267 in FANCA gene and Melanosis PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

rs12931267 in FANCA gene and Skin Pigmentation PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

rs1006548 in FANCA gene and Suntan PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

rs3743860 in FANCA gene and Tonometry PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs9926296 in FANCA gene and Vitiligo PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

rs76888998 in FANCA gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.