功能： caution:Although PubMed:12724401 reports that it contains a PHD-type zinc finger, it contains a RING-type zinc finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity.,disease:Defects in FANCL are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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.,function:Ubiquitin ligase protein that mediates ubiquitination of FANCD2, a key step in the DNA damage pathway. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.,pathway:Protein modification; protein ubiquitination.,similarity:Contains 1 RING-type zinc finger.,subunit:Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm. Nucleus.
组织表达： Brain,Eye,Teratocarcinoma,
科研货号： PLA006533
FANCL Polyclonal Antibody
Catalog NoPLA006533
Product information
基因名称： FANCL PHF9
蛋白名称： E3 ubiquitin-protein ligase FANCL (EC 6.3.2.-) (Fanconi anemia group L protein) (Fanconi anemia-associated polypeptide of 43 kDa) (FAAP43)
功能： caution:Although PubMed:12724401 reports that it contains a PHD-type zinc finger, it contains a RING-type zinc finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity.,disease:Defects in FANCL are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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.,function:Ubiquitin ligase protein that mediates ubiquitination of FANCD2, a key step in the DNA damage pathway. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.,pathway:Protein modification; protein ubiquitination.,similarity:Contains 1 RING-type zinc finger.,subunit:Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients.,
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