Family

Beta-crystallin B2 (IPR033058)

Short name: CRYBB2

Overlapping homologous superfamilies

Family relationships

None.

Description

Beta-crystallins are the most abundant water-soluble proteins in the eye lens. Beta-crystallin B2 was first described as a structural protein of the ocular lens. Mutations in the beta-crystallin B2 gene (CRYBB2) are associated with congenital cataracts [PMID: 9158139, PMID: 24312286]. However, beta-crystallin B2 is also expressed in several regions of the mammalian brain and has a role in hippocampal function and behavioral phenotypes in mice [PMID: 24096375].

GO terms

Biological Process

GO:0007601 visual perception

Molecular Function

GO:0005212 structural constituent of eye lens

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER