Entity Details

Primary name CRYBB1
Entity type gene
Source Source Link

Details

PrimaryID1414
RefseqGeneNG_009826
SymbolCRYBB1
Namecrystallin beta B1
Chromosome22
Location22q12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCRBB1_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
611544 OMIMCataract 17, multiple types (CTRCT17)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. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, 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. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. The disease is caused by variants affecting the gene represented in this entry.

Interactions

13 interactions

InteractorPartnerSourcesPublicationsLink
CRYBB1CRYBA1BioGRID, HPRD, IntAct, MINT17662718 21516116 25416956 25910212 details
CRYBB1CRYBA4HPRD, IntAct, MINT17662718 31254514 details
CRYBB1CRYBB1HPRD, MINT14573871 17662718 details
CRYBB1CRYBA2HPRD, MINT17662718 details
CRYBB1TERF1bhf-ucl, BioGRID21044950 details
CRYBB1TERF2IPbhf-ucl, BioGRID21044950 details
CRYBB1DDIT4LBioGRID, IntAct32296183 details
CRYBB1AP1B1BioGRID, IntAct32296183 details
CRYBB1GAS8BioGRID, IntAct32296183 details
CRYBB1EXOC5BioGRID, IntAct32296183 details
CRYBB1ABCC8HPRD12941953 details
CRYBB1PCBP1BioGRID, IntAct28514442 details
CRYBB1DISC1BioGRID, MINT29961565 details