Entity Details

Primary name CRBB1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP53674
EntryNameCRBB1_HUMAN
FullNameBeta-crystallin B1
TaxID9606
Evidenceevidence at protein level
Length252
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesCRYBB1

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

Subcellular Location

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Domains

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DomainNameCategoryType
IPR001064 Beta/gamma crystallinDomainDomain
IPR011024 Gamma-crystallin-likeFamilyHomologous superfamily
IPR033059 Beta-crystallin B1FamilyFamily

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.