XRCC1 è un gene codificato dal simbolo XRCC1. È noto anche come DNA repair protein X-ray repair cross-complementing protein 1. XRCC1 ha una massa di 69.48kDa, una lunghezza di amminoacidi di 633, ed è implicato in Spinocerebellar ataxia, autosomal recessive, 26.
Offriamo 9 anticorpi contro XRCC1, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e ChIP con campioni derivati da Umano, Topo, Ratto e Scimmia.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Expressed in fibroblasts, retinal pigmented epithelial cells and lymphoblastoid cells (at protein level).
Coinvolgimento nella malattia
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.
Modifica post-translazionale
Phosphorylation of Ser-371 causes dimer dissociation. Phosphorylation by CK2 promotes interaction with APTX and APLF.
Posizione cellulare
Nucleus.
Moves from the nucleoli to the global nuclear chromatin upon DNA damage.
