Mouse Fanconi anemia, complementation group L ELISA Kit | FANCL elisa kit
Mouse E3 ubiquitin-protein ligase FANCL, FANCL ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes the complementation group L subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes. The FA complex is necessary for protection against DNA damage. This gene product, an E3 ubiquitin ligase, catalyzes and is required for the monoubiquitination of the protein encoded by the Fanconi anemia, complementation group D2 gene, a critical step in the FA pathway (PMID: 12973351, 21229326). In mouse, mutations of this E3 ubiquitin ligase gene can lead to infertility in adult males and females, and a deletion of this gene can cause embryonic lethality in some genetic backgrounds. A pseudogene of this gene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
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: Ubiquitin ligase; Ligase; EC 6.3.2.-; Ubiquitin conjugating system; EC 6.3.2.19
Cellular Component: cytoplasm; nuclear envelope; nucleus
Molecular Function: protein binding; zinc ion binding; coenzyme F420-2 alpha-glutamyl ligase activity; ubiquitin protein ligase binding; metal ion binding; UDP-N-acetylmuramoylalanyl-D-glutamyl-2,6-diaminopimelate-D-alanyl-D-alanine ligase activity; ribosomal S6-glutamic acid ligase activity; ubiquitin-protein ligase activity; coenzyme F420-0 gamma-glutamyl ligase activity; ligase activity
Biological Process: protein monoubiquitination; gamete generation; protein ubiquitination; DNA repair; response to DNA damage stimulus; regulation of cell proliferation
Research Articles on FANCL
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Product Notes
The Mouse FANCL fancl (Catalog #AAA9318193) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9318193 ELISA Kit recognizes Mouse 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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