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CRYGS

Domain

Has a two-domain beta-structure, folded into four very similar Greek key motifs.

Function

Crystallins are the dominant structural components of the vertebrate eye lens.

Involvement in disease

Cataract 20, multiple types

CTRCT20

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the beta/gamma-crystallin family.

Alternative names

CRYG8, CRYGS, Gamma-crystallin S, Beta-crystallin S, Gamma-S-crystallin

swissprot:P22914 entrezGene:1427 omim:123730