Human ASCC1 Protein

Product Description

Human ASCC1 Protein
Catalog number: B2011788
Lot number: Batch Dependent
Expiration Date: Batch dependent
Amount: 50 µg
Molecular Weight or Concentration: 0.5 mg/mL
Supplied as: Solution
Applications: molecular tool for various biochemical applications
Storage: -20 °C
Keywords: Activating signal cointegrator 1 complex subunit 1 protein, ASC1p50 protein, CGI-18 protein, p50 protein, ASCC 1 protein, ASCC-1 protein
Grade: Biotechnology grade. All products are highly pure. All solutions are made with Type I ultrapure water (resistivity >18 MΩ-cm) and are filtered through 0.22 um.

References:
1: Juszkiewicz S, Speldewinde SH, Wan L, Svejstrup JQ, Hegde RS. The ASC-1 Complex Disassembles Collided Ribosomes Mol Cell. 2020 Aug 20;79(4):603-614.e8.
2: Meunier J, Villar-Quiles RN, Duband-Goulet I, Ferreiro A. Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases Int J Mol Sci. 2021 Jun 3;22(11):6039.
3: Böhm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB, Laporte J. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures J Med Genet. 2019 Sep;56(9):617-621.
4: Torices S, Alvarez-Rodríguez L, Grande L, Varela I, Muñoz P, Pascual D, Balsa A, López-Hoyos M, Martinez-Taboada V, Fernández-Luna JL. A Truncated Variant of ASCC1, a Novel Inhibitor of NF-κB, Is Associated with Disease Severity in Patients with Rheumatoid Arthritis J Immunol. 2015 Dec 1;195(11):5415-20.
5: Rosano KK, Wegner DJ, Shinawi M, Baldridge D, Bucelli RC, Dahiya S, White FV, Willing MC, McAllister W, Taft RJ, Bluske K, Buchanan A, Cole FS, Wambach JA. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2) Am J Med Genet A. 2021 Jul;185(7):2190-2197.
6: Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures Am J Hum Genet. 2016 Mar 3;98(3):473-489.
7: Cho HW, Jin HS, Eom YB. Association between non-Caucasian-specific ASCC1 gene polymorphism and osteoporosis and obesity in Korean postmenopausal women J Bone Miner Metab. 2020 Nov;38(6):868-877.
8: Lu W, Liang M, Su J, Wang J, Li L, Zhang S, Qin Z, Huang L, Lu Y, Yi S, Yi S, Xie B, Zheng H, Luo J, Gao X, Shen Y. Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a “Definitive” gene-disease relationship Mol Genet Genomic Med. 2020 May;8(5):e1212.
9: Soll JM, Brickner JR, Mudge MC, Mosammaparast N. RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage J Biol Chem. 2018 Aug 31;293(35):13524-13533.
10: Marais A, Bertoli-Avella AM, Beetz C, Altunoglu U, Alhashem A, Mohamed S, Alghamdi A, Willems P, Tsoutsou E, Fryssira H, Pons R, Almarzooq R, Karatoprak EY, Ayaz A, Ünverengil G, Calvo M, Yüksel Z, Bauer P. Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease Eur J Med Genet. 2022 Aug;65(8):104537.

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