Entity Details

Primary name CRGC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP07315
EntryNameCRGC_HUMAN
FullNameGamma-crystallin C
TaxID9606
Evidenceevidence at protein level
Length174
SequenceStatuscomplete
DateCreated1988-04-01
DateModified2021-06-02

Ontological Relatives

GenesCRYGC

GO terms

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GOName
GO:0002088 lens development in camera-type eye
GO:0005212 structural constituent of eye lens
GO:0005634 nucleus
GO:0005737 cytoplasm
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

Diseases

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Disease IDSourceNameDescription
604307 OMIMCataract 2, multiple types (CTRCT2)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. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. The disease is caused by variants affecting the gene represented in this entry.