XRCC1 est un gène codé par le symbole XRCC1. Il est également connu sous le nom de DNA repair protein X-ray repair cross-complementing protein 1. XRCC1 a une masse de 69.48kDa, une longueur d'acide aminé de 633, et est impliqué dans Spinocerebellar ataxia, autosomal recessive, 26.
Nous proposons 9 des anticorps contre XRCC1, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et ChIP avec des échantillons dérivés de Humain, Souris, Rat et Singe.
Informations sur les Gènes et les Protéines
Résumé UniProt
Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity.
Résumé Entrez
The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity.
Spécificité tissulaire
Expressed in fibroblasts, retinal pigmented epithelial cells and lymphoblastoid cells (at protein level).
Implication dans la maladie
Spinocerebellar ataxia, autosomal recessive, 26: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR26 is a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal muscle weakness and areflexia.
Modification post-traductionnelle
Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and APLF.
Localisation cellulaire
Nucleus.
Moves from the nucleoli to the global nuclear chromatin upon DNA damage.
