Entrez Summary: This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009].
UniProt Summary: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
Pfam DomainsGO Terms
Pfam Domains
Connexin
Connexin CCC
Connexin50
GO Terms
gap junction-mediated intercellular transport
intercellular transport
gap junction channel activity
connexin complex
lens development in camera-type eye
camera-type eye development
protein homooligomerization
eye development
visual system development
sensory system development
protein complex oligomerization
sensory organ development
cell-cell signaling
transmembrane transport
integral component of plasma membrane
protein-containing complex assembly
protein-containing complex subunit organization
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)