GJA1

Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43) — is a is_associated_with::protein that in humans is encoded by the GJA1 is_associated_with::gene.

Function
This gene is a member of the is_associated_with::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. The encoded protein is the major protein of is_associated_with::gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development.

Clinical significance
Mutations in this gene have been associated with is_associated_with::oculodentodigital dysplasia, heart malformations, and is_associated_with::Hallermann–Streiff syndrome.

Interactions
Gap junction protein, alpha 1 has been shown to interact with is_associated_with::MAPK7, is_associated_with::Caveolin 1, is_associated_with::Tight junction protein 1 is_associated_with::CSNK1D, and PTPmu (is_associated_with::PTPRM).