CRYBA4 Human

Crystallin Beta A4 (CRYBA4) is a protein encoded by the CRYBA4 gene in humans. It belongs to the beta/gamma-crystallin family, which are the dominant structural components of the vertebrate eye lens. These proteins play a crucial role in maintaining the transparency and refractive index of the lens, essential for proper vision.

The CRYBA4 gene is located on chromosome 22q11.2-q13.1 . The gene encodes a protein that consists of 196 amino acids and has a molecular weight of approximately 24.5 kDa . The protein is characterized by the presence of four homologous motifs, a connecting peptide, and N- and C-terminal extensions .

Crystallins are divided into alpha, beta, and gamma families, with beta and gamma crystallins forming a superfamily. Beta-crystallins, including CRYBA4, are further divided into acidic and basic groups. CRYBA4 belongs to the acidic group and is part of a gene cluster with beta-B1, beta-B2, and beta-B3 .

Beta-crystallins are known for their ability to form aggregates of different sizes. They can self-associate to form dimers or heterodimers with other beta-crystallins . This aggregation is crucial for the structural integrity and function of the eye lens.

Mutations in the CRYBA4 gene have been associated with various types of cataracts, including Cataract 23, Multiple Types . Cataracts are characterized by the clouding of the lens, leading to decreased vision. Understanding the structure and function of CRYBA4 is essential for developing therapeutic strategies for cataract treatment.

Recombinant human CRYBA4 is produced using E. coli expression systems. The recombinant protein is often tagged with a His-tag at the N-terminus to facilitate purification . It is used in various research applications to study the protein’s structure, function, and interactions.