Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 gene. [5] [6] [7]
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [7]
Wolframin is a protein that in humans is encoded by the WFS1 gene.
Gamma-crystallin D is a protein that in humans is encoded by the CRYGD gene.
Lens fiber major intrinsic protein also known as aquaporin-0 is a protein that in humans is encoded by the MIP gene.
Beta-crystallin B2 is a protein that in humans is encoded by the CRYBB2 gene.
Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the PRKCSH gene.
Crystallin, gamma C, also known as CRYGC, is a protein which in humans is encoded by the CRYGC gene.
Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.
Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.
Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.
Gamma-crystallin B is a protein that in humans is encoded by the CRYGB gene.
Gamma-crystallin S is a protein that in humans is encoded by the CRYGS gene.
Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.
Heat shock factor protein 4 is a protein that in humans is encoded by the HSF4 gene.
Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene.
BFSP2 is a gene that encodes the protein phakinin in humans.
Beta-crystallin B3 is a protein that in humans is encoded by the CRYBB3 gene.
Gamma-crystallin A is a protein that in humans is encoded by the CRYGA gene.
Lens fiber membrane intrinsic protein is a protein that in humans is encoded by the LIM2 gene.
Alpha-crystallin A chain is a protein that in humans is encoded by the CRYAA gene.
Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.