Entity Details

Primary name CRYBB3
Entity type gene
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Details

PrimaryID1417
RefseqGeneNG_009828
SymbolCRYBB3
Namecrystallin beta B3
Chromosome22
Location22q11.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-01-19
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCRBB3_HUMAN

GO terms

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GOName
GO:0002088 lens development in camera-type eye
GO:0005212 structural constituent of eye lens
GO:0007601 visual perception

Diseases

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Disease IDSourceNameDescription
609741 OMIMCataract 22, multiple types (CTRCT22)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. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. The disease is caused by variants affecting the gene represented in this entry.