Human Fanconi anemia, complementation group L ELISA Kit | FANCL elisa kit
Human E3 ubiquitin-protein ligase FANCL, FANCL ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Ligase; Ubiquitin conjugating system; Ubiquitin ligase; EC 6.3.2.19; EC 6.3.2.-
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
Research Articles on FANCL
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Product Notes
The Human FANCL fancl (Catalog #AAA9338607) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9338607 ELISA Kit recognizes Human FANCL. It is sometimes possible for the material contained within the vial of "Fanconi anemia, complementation group L, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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