General Description
Connexin 43 (Cx43) is also known as gap junction alpha-1 protein (GJA1). It is mapped to human chromosome 6q22.31. Cx43 is membrane protein with four transmembrane spanning regions, which comprise the gap junction channel. The loop connecting the transmembrane regions play a key role in channel docking. The N- and C-terminal amino acids are exposed to cytoplasm.
Biochem/physiol Actions
Connexin 43 (Cx43) function is controlled by phosphorylation, SUMOylation and ubiquitination. The C-terminal tail of Cx43 modulates cytoskeletal dynamics and cell migration properties. Mutation in Cx43 leads to dysfunction of channel regulation domain and is associated with pathogenesis of hypoplastic left heart syndrome (HLHS). Cx43 dysregulation in testis contributes to infertility and testicular tumor. A gene mutation in the Cx43 results in abnormal development of eyes and teeth in oculodentodigital dysplasia (ODDD) , craniometaphyseal dysplasia and sudden infant death syndrome. Mutations in the GJA1 results in abnormal facial and skull development in hallermann-streiff syndrome (HSS). Missense mutations in GJA1 gene is also implicated in skin disorder called the, erythrokeratodermia variabilis et progressiva (EKVP)
