FANCD2: Difference between revisions
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| summary_text = The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. 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 D2. This protein is |
| summary_text = The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. 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 D2. This protein is [[Ubiquitin#Ubiquitination_.28Ubiquitylation.29|monoubiquitinated]] in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms.<ref name="entrez">{{cite web | title = Entrez Gene: FANCD2 Fanconi anemia, complementation group D2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2177| accessdate = }}</ref> |
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Revision as of 20:02, 17 May 2008
Fanconi anemia, complementation group D2, also known as FANCD2, is a human gene.[4]
A team has shown an in-vitro demonstration of how tobacco smoke suppresses the expression of FANCD2, which codes for a DNA damage "caretaker" or repair mechanism. [5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000144554 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: FANCD2 Fanconi anemia, complementation group D2".
- ^
Hays Laura; et al. (2008-05-12). "Cigarette smoke induces genetic instability in airway epithelial cells by suppressing FANCD2 expression". British Journal of Cancer.
{{cite journal}}: Explicit use of et al. in:|author=(help) cited in "OHSU Cancer Institute researchers pinpoint how smoking causes cancer". Eurekalert. 2008-05-13.
Further reading
- Wang X, Kennedy RD, Ray K, Stuckert P, Ellenberger T, D'Andrea AD (2007 April). "Chk1-Mediated Phosphorylation of FANCE Is Required for the Fanconi Anemia/BRCA Pathway". Mol Cell Biol. 27 (8): 3098–3108. doi:10.1128/MCB.02357-06.. PMID 17296736.
{{cite journal}}: Check|doi=value (help); Check date values in:|date=(help); Unknown parameter|pmcid=ignored (|pmc=suggested) (help)CS1 maint: multiple names: authors list (link)
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