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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). Additionally we are shipping FANCL Antibodies (59) and FANCL Kits (2) and many more products for this protein.
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A novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene identified in a Chinese patient with Fanconi anemia (show PALB2 Proteins).
Using small interfering RNA (siRNA), knockdown of FANCF, FANCL, or FANCD2 inhibited function of the FA/BRCA pathway in A549, A549/DDP (show TIMM8A Proteins) and SK-MES (show ME1 Proteins)-1 cells, and potentiated sensitivity of the three cells to cisplatin.
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia (show PALB2 Proteins) Overlapping the VACTERL Association
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.
Suppression of FANCL expression in normal CD34(+) stem and (show CTNNB1 Proteins)progenitor cells results in fewer beta-catenin active cells and inhibits expansion of multilineage progenitors.
FA DNA repair genes, FANCD2, FANCL, and FANCC (show FANCC Proteins), are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer
genetic diversity in FANCA (show FANCA Proteins), FANCC (show FANCC Proteins) and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population.
FANCL is associated with acute lung injury in mice
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
data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2
The authors report the structure of the human FANCL central domain and show that the RING domain is necessary and sufficient for E2 binding.
Using HeLa cells and lymphoblasts from Fanconi anemia (show PALB2 Proteins) patients, the authors characterize PHF9 (FANCL) as a ubiquitin ligase (show RNF123 Proteins) and show it is essential for FANCD2 monoubiquitination. The authors state that PHF9 is the human homolog of mouse Pog (Fancl).
FANCL increases the activity and expression of beta-catenin (show CTNNB1 Proteins), a key pluripotency factor in hematopoietic stem cells.
UBE2W (show UBE2W Proteins) regulates FANCD2 monoubiquitination by mechanisms different from UBE2T (show Ube2t Proteins) and HRR6.
Fancl is associated with acute lung injury
Deletion of Pog causes germ cell deficiency, but is also accompanied by reduced embryonic body weight and sometimes lethality.
GGN1 and GGN3, interacted with POG, regulated the localization of POG, and played a role in spermatogenesis.
unlike in POG-deficient females, the germ cells in POG-deficient males eventually populate the seminiferous tubules at 9 wk, and fertility can be achieved by 12 wk.
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 L. Alternative splicing results in two transcript variants encoding different isoforms.
E3 ubiquitin-protein ligase FANCL
, PHD finger protein 9
, fanconi anemia group L protein
, fanconi anemia-associated polypeptide of 43 kDa
, fanconi anemia group L protein homolog
, germ cell deficient
, proliferation of germ cells protein