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Rabbit Anti-phospho-FANCG (Ser383)/FITC Conjugated antibody
background:
FANCG, involved in Fanconi anemia, confers resistance to both hygromycin and mitomycin C. FANCG contains a 5-prime GSLCrich untranslated region characteristic of housekeeping genes. The putative 622-amino acid protein has a leucine-zipper motif at its N-terminus. Fanconi anemia is an autosomal recessive disorder with diverse clinical symptoms, including developmental anomalies, bone marrow failure, and early occurrence of malignancies. A minimum of 8 FA genes have been identified.
Function:
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.
Subunit:
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. In complex with FANCF, FANCA and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. When phosphorylated at Ser-7, forms a complex with BRCA2, FANCD2 and XRCC3.
Subcellular Location:
Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
Tissue Specificity:
Highly expressed in testis and thymus. Found in lymphoblasts.
DISEASE:
Defects in FANCG are a cause of Fanconi anemia complementation group G (FANCG) [MIM:614082]. 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.
Similarity:
Contains 4 TPR repeats.
Database links:
Entrez Gene: 2189 Human
Omim: 602956 Human
SwissProt: O15287 Human
Unigene: 591084 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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