InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRYBA1

Summary

InnateDB Protein

IDBP-38236.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRYBA1

Protein Name

crystallin, beta A1

Synonyms

CRYB1; CTRCT10;

Species

Homo sapiens

Ensembl Protein

ENSP00000225387

InnateDB Gene

IDBG-38234 (CRYBA1)

Protein Structure

UniProt Annotation

Function

Crystallins are the dominant structural components of the vertebrate eye lens.

Subcellular Localization

Disease Associations

Cataract 10, multiple types (CTRCT10) [MIM:600881]: 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. CTRCT10 includes congenital zonular with sutural opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted Y-shaped posterior sutural opacities. 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. {ECO:0000269PubMed:15016766, ECO:0000269PubMed:9788845}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005212	structural constituent of eye lens
GO:0005515	protein binding
GO:0042803	protein homodimerization activity