FANCA

Fanconi anemia, complementation group A, also known as FANCA, is a human gene.cite web | title = Entrez Gene: FANCA Fanconi anemia, complementation group A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2175| accessdate = ]

PBB_Summary
section_title =
summary_text = The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. 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.cite web | title = Entrez Gene: FANCA Fanconi anemia, complementation group A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2175| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Marmo E |title= [Beta-adrenolytic agents in the treatment of hypertension] |journal=La Clinica terapeutica |volume=74 |issue= 3 |pages= 209–29 |year= 1976 |pmid= 6186 |doi=
*cite journal | author=Pronk JC, Gibson RA, Savoia A, "et al." |title=Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. |journal=Nat. Genet. |volume=11 |issue= 3 |pages= 338–40 |year= 1995 |pmid= 7581462 |doi= 10.1038/ng1195-338
*cite journal | author=Gschwend M, Levran O, Kruglyak L, "et al." |title=A locus for Fanconi anemia on 16q determined by homozygosity mapping. |journal=Am. J. Hum. Genet. |volume=59 |issue= 2 |pages= 377–84 |year= 1996 |pmid= 8755924 |doi=
*cite journal | author=Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, "et al." |title=Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 320–3 |year= 1996 |pmid= 8896563 |doi= 10.1038/ng1196-320
*cite journal | author= |title=Positional cloning of the Fanconi anaemia group A gene. The Fanconi anaemia/breast cancer consortium. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 324–8 |year= 1996 |pmid= 8896564 |doi= 10.1038/ng1196-324
*cite journal | author=Ianzano L, D'Apolito M, Centra M, "et al." |title=The genomic organization of the Fanconi anemia group A (FAA) gene. |journal=Genomics |volume=41 |issue= 3 |pages= 309–14 |year= 1997 |pmid= 9169126 |doi= 10.1006/geno.1997.4675
*cite journal | author=Levran O, Erlich T, Magdalena N, "et al." |title=Sequence variation in the Fanconi anemia gene FAA. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 24 |pages= 13051–6 |year= 1998 |pmid= 9371798 |doi=
*cite journal | author=Joenje H, Oostra AB, Wijker M, "et al." |title=Evidence for at least eight Fanconi anemia genes. |journal=Am. J. Hum. Genet. |volume=61 |issue= 4 |pages= 940–4 |year= 1997 |pmid= 9382107 |doi=
*cite journal | author=Kupfer GM, Näf D, Suliman A, "et al." |title=The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. |journal=Nat. Genet. |volume=17 |issue= 4 |pages= 487–90 |year= 1997 |pmid= 9398857 |doi= 10.1038/ng1297-487
*cite journal | author=Savino M, Ianzano L, Strippoli P, "et al." |title=Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. |journal=Am. J. Hum. Genet. |volume=61 |issue= 6 |pages= 1246–53 |year= 1998 |pmid= 9399890 |doi=
*cite journal | author=Levran O, Doggett NA, Auerbach AD |title=Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. |journal=Hum. Mutat. |volume=12 |issue= 3 |pages= 145–52 |year= 1998 |pmid= 9711872 |doi= 10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G |doilabel=10.1002/(SICI)1098-1004(1998)12:3145::AID-HUMU23.0.CO;2-G
*cite journal | author=Centra M, Memeo E, d'Apolito M, "et al." |title=Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. |journal=Genomics |volume=51 |issue= 3 |pages= 463–7 |year= 1998 |pmid= 9721219 |doi= 10.1006/geno.1998.5353
*cite journal | author=Näf D, Kupfer GM, Suliman A, "et al." |title=Functional activity of the fanconi anemia protein FAA requires FAC binding and nuclear localization. |journal=Mol. Cell. Biol. |volume=18 |issue= 10 |pages= 5952–60 |year= 1998 |pmid= 9742112 |doi=
*cite journal | author=Yamashita T, Kupfer GM, Naf D, "et al." |title=The fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 22 |pages= 13085–90 |year= 1998 |pmid= 9789045 |doi=
*cite journal | author=Nakamura A, Matsuura S, Tauchi H, "et al." |title=Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. |journal=J. Hum. Genet. |volume=44 |issue= 1 |pages= 48–51 |year= 1999 |pmid= 9929978 |doi=
*cite journal | author=Wijker M, Morgan NV, Herterich S, "et al." |title=Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 1 |pages= 52–9 |year= 1999 |pmid= 10094191 |doi= 10.1038/sj.ejhg.5200248
*cite journal | author=Kupfer G, Naf D, Garcia-Higuera I, "et al." |title=A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. |journal=Exp. Hematol. |volume=27 |issue= 4 |pages= 587–93 |year= 1999 |pmid= 10210316 |doi=
*cite journal | author=Garcia-Higuera I, Kuang Y, Näf D, "et al." |title=Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. |journal=Mol. Cell. Biol. |volume=19 |issue= 7 |pages= 4866–73 |year= 1999 |pmid= 10373536 |doi=
*cite journal | author=Jelesko JG, Harper R, Furuya M, Gruissem W |title=Rare germinal unequal crossing-over leading to recombinant gene formation and gene duplication in Arabidopsis thaliana. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 18 |pages= 10302–7 |year= 1999 |pmid= 10468603 |doi=
*cite journal | author=Waisfisz Q, de Winter JP, Kruyt FA, "et al." |title=A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 18 |pages= 10320–5 |year= 1999 |pmid= 10468606 |doi=

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes