EXOSC2 Antibody – Rabbit Polyclonal

Missense mutations in the RNA exosome component 2 (EXOSC2), also known as ribosomal RNA-processing protein 4 (RRP4), were recently identified in two unrelated families with a novel syndrome known as Short stature, Hearing loss, Retinitis pigmentosa, and distinctive Facies (SHRF). EXOSC2 encodes the 'ribosomal RNA-processing protein 4' (RRP4)-one of the core components of the RNA exosome. The RNA exosome is a multiprotein complex that plays key roles in RNA processing and degradation. Mutations in the RNA exosome gene EXOSC2 cause a distinct syndrome with various tissue-specific phenotypes including retinitis pigmentosa, hearing loss, and mild intellectual disability. Retinitis pigmentosa in combination with hearing loss can be a feature of different Mendelian disorders.

Yang X, et al. (2020) Genetic and genomic studies of pathogenic exosc2 mutations in the newly described disease shrf implicate the autophagy pathway in disease pathogenesis. Hum Mol Genet 29 (4): 541-553.Morton DJ, et al. (2018) The rna exosome and rna exosome-linked disease. Rna 24 (2): 127-142.Di Donato N, et al. (2016) Mutations in exosc2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet 53 (6): 419-425.

Small volumes of anti-EXOSC2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS8108986 is an antibody targeting EXOSC2. Also known as Anti-EXOSC2 Antibody, Rabbit Polyclonal. Reactive in Human. Host: Rabbit.