FANCL Antibody, Biotin conjugated

1. A novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene identified in a Chinese patient with Fanconi anemia. PMID: 28419882
2. Using small interfering RNA (siRNA), knockdown of FANCF, FANCL, or FANCD2 inhibited function of the FA/BRCA pathway in A549, A549/DDP and SK-MES-1 cells, and potentiated sensitivity of the three cells to cisplatin. PMID: 26385482
3. Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association PMID: 25754594
4. a signal transduction pathway involved in self-renewal and survival of hematopoietic stem cells also functions to stabilize FANCL and suggesting that FANCL participates directly in support of stem cell function. PMID: 23783032
5. FAVL elevation can increase the tumorigenic potential of bladder cancer cells, including the invasive potential that confers the development of advanced bladder cancer. PMID: 22828653
6. Suppression of FANCL expression in normal CD34(+) stem and progenitor cells results in fewer beta-catenin active cells and inhibits expansion of multilineage progenitors. PMID: 22653977
7. FA DNA repair genes, FANCD2, FANCL, and FANCC, are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer PMID: 21697891
8. genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population. PMID: 21543111
9. FANCL is associated with acute lung injury in mice PMID: 21297076
10. expression of a novel splice variant of FA complementation group L (FANCL), named FAVL, can impair the FA pathway in non-FA tumor cells and act as a tumor promoting factor PMID: 20407210
11. data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2 PMID: 12973351
12. FANCL, via its WD40 region, binds the FA complex and, via its PHD, recruits an as-yet-unidentified E2 for mono-ubiquitination of FANCD2 PMID: 16474167
13. Abnormal FANCL expression is the cause leading to a defective Ranconi anemia-BRCA pathway, conferring sensitivity of a lung cancer cell line to mitomycin C> PMID: 17106252
14. the first report to describe hypermethylation of FANCC in leukemia PMID: 18607065
15. Upon the occurrence of DNA damage, FANCI becomes monoubiquitinated on Lys-523 by the UBE2T-FANCL pair. PMID: 19589784
16. results rule out a major role of FANCL in familial breast cancer susceptibility PMID: 19737859
17. FANCL is necessary for primordial germ cell proliferation during the embryonic stage but not necessary for spermatogonia proliferation in adulthood. Thus, mouse FancL-/- males are infertile at 7 to 12 weeks but gain fertility thereafter. PMID: 12606378
18. Deficiency of Fancl (also called Pog) is the cause of gcd mouse, which has a reduced number of primordial germ cells during the embryonic stage. PMID: 12417526

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HGNC: 20748

OMIM: 608111

KEGG: hsa:55120

STRING: 9606.ENSP00000385021

UniGene: Hs.631890