XPF ist ein Gen, das durch das Symbol ERCC4 kodiert wird. Es ist auch bekannt als: DNA repair endonuclease DNA excision repair protein ERCC-4; DNA repair protein complementing XP-F cells; Xeroderma pigmentosum group F-complementing protein; ERCC4; ERCC11. XPF hat eine Masse von 104.49kDa, eine Aminosäurelänge von 916, und ist an folgenden Krankheiten beteiligt: Xeroderma pigmentosum complementation group F; XFE progeroid syndrome; Xeroderma pigmentosum type F/Cockayne syndrome; Fanconi anemia complementation group Q.
Wir bieten 10 antikörper gegen XPF, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA, ICC/IF, IP and ChIP mit Proben abgeleitet von Human, Maus, Ratte, Affe und Hund.
Gen- und Proteininformationen
UniProt Zusammenfassung
Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.
Entrez Zusammenfassung
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).
Rolle bei Krankheiten
Xeroderma pigmentosum complementation group F: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype.
XFE progeroid syndrome: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment.
Xeroderma pigmentosum type F/Cockayne syndrome: A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition.
Fanconi anemia complementation group Q: 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.
Sequenzähnlichkeiten
Belongs to the XPF family.
