Entity Details

Primary name CRBA4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP53673
EntryNameCRBA4_HUMAN
FullNameBeta-crystallin A4
TaxID9606
Evidenceevidence at protein level
Length196
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesCRYBA4

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
GO:0042802 identical protein binding
GO:0043010 camera-type eye development

Subcellular Location

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Domains

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DomainNameCategoryType
IPR001064 Beta/gamma crystallinDomainDomain
IPR011024 Gamma-crystallin-likeFamilyHomologous superfamily
IPR033342 Beta-crystallin A4FamilyFamily

Diseases

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Disease IDSourceNameDescription
610425 OMIMCataract 23, multiple types (CTRCT23)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. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. The disease is caused by variants affecting the gene represented in this entry.