XPF est un gène codé par le symbole ERCC4. Il est également connu sous le nom de: 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 a une masse de 104.49kDa, une longueur d'acide aminé de 916, et est impliqué dans les maladies: Xeroderma pigmentosum complementation group F; XFE progeroid syndrome; Xeroderma pigmentosum type F/Cockayne syndrome; Fanconi anemia complementation group Q.
Nous proposons 10 des anticorps contre XPF, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, IP et ChIP avec des échantillons dérivés de Humain, Souris, Rat, Singe et Canin.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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).
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the XPF family.
Localisation cellulaire
Nucleus.
