Human CRYBB1 Protein

Description

Human CRYBB1 Protein
Catalog number: B2012036
Lot number: Batch Dependent
Expiration Date: Batch dependent
Amount: 100 µg
Molecular Weight or Concentration: 1 mg/mL
Supplied as: Solution
Applications: molecular tool for various biochemical applications
Storage: -20 °C
Keywords: CRYBB 1, Crystallin beta B1 protein, CRYBB 1 protein, Eye lens structural protein protein, CRYBB-1 protein, OTTHUMP00000028719., CRYBB 1 protein, CRYBB1 protein, CRYBB-1, CATCN3. protein, Beta-crystallin B1 Beta crystallin B1 protein, CRYBB1
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: Li W, Ji Q, Wei Z, Chen YL, Zhang Z, Yin X, Aghmiuni SK, Liu M, Chen W, Shi L, Chen Q, Du X, Yu L, Cao MJ, Wang Z, Huang S, Jin T, Wang Q. Biochemical characterization of G64W mutant of acidic beta-crystallin 4 Exp Eye Res. 2019 Sep;186:107712.
2: Ji Y, Zhao X, Zhang J, Zhang D, Tian C, Zhang L, Zhao Y, Zhao J. A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family Eur J Ophthalmol. 2021 May;31(3):1064-1069.
3: Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13.
4: Graw J. From eyeless to neurological diseases Exp Eye Res. 2017 Mar;156:5-9.
5: Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A. A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q Am J Hum Genet. 2002 Nov;71(5):1216-21.
6: Limi S, Zhao Y, Guo P, Lopez-Jones M, Zheng D, Singer RH, Skoultchi AI, Cvekl A. Bidirectional Analysis of Cryba4-Crybb1 Nascent Transcription and Nuclear Accumulation of Crybb3 mRNAs in Lens Fibers Invest Ophthalmol Vis Sci. 2019 Jan 2;60(1):234-244.
7: Kumar M, Agarwal T, Kaur P, Kumar M, Khokhar S, Dada R. Molecular and structural analysis of genetic variations in congenital cataract Mol Vis. 2013 Nov 24;19:2436-50. eCollection 2013.
8: Siggs OM, Javadiyan S, Sharma S, Souzeau E, Lower KM, Taranath DA, Black J, Pater J, Willoughby JG, Burdon KP, Craig JE. Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract Eur J Hum Genet. 2017 Jun;25(6):711-718.
9: Jin A, Zhang Y, Xiao D, Xiang M, Jin K, Zeng M. A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia Curr Eye Res. 2020 Apr;45(4):483-489.
10: Karahan M, Demirtaş AA, Erdem S, Ava S, Tekeş S, Keklikçi U. Crystalline gene mutations in Turkish children with congenital cataracts Int Ophthalmol. 2021 Aug;41(8):2847-2852.

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