Target intelligence / Profile preview

Gap junction protein delta-4 (GJD4)

Target
GJD4
Molecular classification
Ion channel, Gap junction protein (Connexin family)
01

Overview

Gap junction protein delta-4 (GJD4) is a member of the connexin family of proteins that assemble to form gap junction channels, which create direct cytoplasmic connections between adjacent cells. Each gap junction channel is composed of two hemichannels (connexons), each made up of six connexin subunits such as GJD4. Through these channels, small molecules and ions (up to ~1 kDa) can diffuse, enabling the exchange of nutrients, metabolites, and signaling molecules between cells. GJD4 likely plays a role in modulating intercellular communication critical for functions like auditory signaling and may be involved in other physiological processes where gap junctions are essential. Deficiencies or mutations in connexin genes are known causes of diseases such as deafness and neuropathies, and while some disease associations exist for GJD4, functional and clinical relevance are still being elucidated.

Other names
Gap junction delta-4 proteinCX40.1Connexin-40.1connexin 40.1FLJ90023gap junction protein, delta 440.1kDa
02

Biological functions

Intercellular communicationGap junction channel activityCell-cell signaling
03

Disease associations

Deafness (Autosomal Recessive 33)Strabismic amblyopiaOther (evidence lacking for many diseases, but similar connexin proteins are implicated in neuropathies, hearing loss, and certain cancers)
04

Safety considerations

Potential for arrhythmogenic effects (by analogy with connexin dysfunction in cardiac conduction)Limited direct clinical data on GJD4-specific safety concerns

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