E3 ubiquitin-protein ligase FANCL; 632-; Fanconi anemia group L protein; Fanconi anemia-associated polypeptide of 43 kDa; FAAP43; FANCL; PHF9

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This FANCL antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 274-302 amino acids from the C-terminal region of human FANCL.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-FANCL antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Western Blot (WB), ELISA (EIA)

WB~~1:1000

FANCL Antibody (C-term) western blot analysis in 293 cell line lysates (35ug/lane).This demonstrates the FANCL antibody detected the FANCL protein (arrow).

42905

Fanconi anemia, complementation group L

E3 ubiquitin-protein ligase FANCL

E3 ubiquitin-protein ligase FANCL

PHF9; FAAP43??[Similar Products]

FANCL_HUMAN

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. [provided by RefSeq, Jul 2008]

FANCL: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth. Defects in FANCL are the cause of Fanconi anemia complementation group L (FANCL). FANCL is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 6.3.2.-; Ubiquitin conjugating system; Ligase; EC 6.3.2.19; Ubiquitin ligase

Chromosomal Location of Human Ortholog: 2p16.1

Cellular Component: nucleoplasm; cytoplasm; nuclear envelope

Molecular Function: zinc ion binding; ubiquitin protein ligase binding; ubiquitin-protein ligase activity; ligase activity

Biological Process: protein monoubiquitination; gamete generation; DNA repair; response to DNA damage stimulus; regulation of cell proliferation

Disease: Fanconi Anemia, Complementation Group L; Tracheoesophageal Fistula With Or Without Esophageal Atresia

Zhang, J., et al. J. Clin. Invest. 120(5):1524-1534(2010)
Garcia, M.J., et al. Carcinogenesis 30(11):1898-1902(2009)
McWilliams, R.R., et al. Cancer Epidemiol. Biomarkers Prev. 18(9):2549-2552(2009)
Longerich, S., et al. J. Biol. Chem. 284(35):23182-23186(2009)
Hess, C.J., et al. Cell. Oncol. 30(4):299-306(2008)

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