Entrez Summary: This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].
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
GO Terms
gap junction channel activity
gap junction
connexin complex
cellular response to retinoic acid
response to retinoic acid
placenta development
cellular response to acid chemical
response to acid chemical
in utero embryonic development
skin development
reproductive structure development
reproductive system development
cellular response to lipid
spermatogenesis
cell junction
male gamete generation
chordate embryonic development
embryo development ending in birth or egg hatching
developmental process involved in reproduction
intracellular membrane-bounded organelle
gamete generation
multicellular organismal reproductive process
sexual reproduction
multicellular organism reproduction
response to lipid
embryo development
multi-organism reproductive process
cellular response to oxygen-containing compound
transmembrane transport
reproductive process
reproduction
response to oxygen-containing compound
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)