Target intelligence / Profile preview

Gap junction alpha-1 protein (Cx43)

Target
Cx43
Molecular classification
Connexin, Gap junction protein
01

Overview

Gap junction alpha-1 protein, also known as Connexin 43 (Cx43), is a member of the connexin family and is encoded by the GJA1 gene. It forms gap junction channels that facilitate direct communication between adjacent cells, allowing the passage of ions, metabolites, and small signaling molecules. Cx43 is crucial for maintaining tissue homeostasis and plays essential roles in cardiac function, development, immune response, and other physiological processes. Mutations in GJA1 are associated with various disorders, including oculodentodigital dysplasia, cardiac arrhythmias, and deafness. Cx43 also has channel-independent functions, such as regulating microtubule networks and protecting against apoptosis. The protein has a short half-life and is regulated by phosphorylation.

Other names
Connexin 43GJA1
02

Mechanism of action

Modulation of gap junction channel permeability or expression.

03

Biological functions

Intercellular communicationCardiac muscle contraction synchronizationRegulation of bladder capacityEmbryonic developmentImmune cell maturation/activationInflammatory responsesUterine contractions during laborSpermatogenesisRegulation of microtubule networksProtection against apoptosis
04

Disease associations

Oculodentodigital dysplasiaPalmoplantar keratoderma with congenital alopeciaCardiac arrhythmiasCharcot–Marie–Tooth diseaseDysplasiasCongenital cataractsDeafness
05

Safety considerations

Potential for off-target effects due to ubiquitous expressionAltered expression can lead to various diseases

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