Target intelligence / Profile preview

Gap junction alpha-8 protein (GJA8 (Connexin-50; Cx50))

Target
GJA8 (Connexin-50; Cx50)
Molecular classification
Ion channel, Gap junction protein, Transmembrane protein
01

Overview

Gap junction alpha-8 protein is a member of the connexin family, forming hexameric connexons that dock between neighboring cells to create gap junction channels[2][3][6]. These channels facilitate the direct diffusion of ions, metabolites, and signaling molecules below 1 kDa, crucial for maintaining lens homeostasis and transparency[4][5][7]. GJA8 is highly expressed in the lens, and to a lesser extent in the cornea and other ocular tissues[7], and is essential for lens growth, fiber cell differentiation, and cell adhesion. Mutations cause a variety of inherited ocular disorders, often congenital and involving both lens structure and transparency. Genetic studies identify dominant, de novo missense, and microdeletion variants with variable penetrance and severity[5][7].

Other names
Connexin-50Cx50Lens fiber protein MP70CAECAE1CTRCT1CZP1MP70Gap junction alpha 8Gap junction membrane channel protein alpha-8Cell surface glycoproteinGap junction protein alpha 8 50kDaLens intrinsic membrane protein MP70
02

Mechanism of action

Drugs or antibodies targeting GJA8 affect gap junction channel formation and function, thereby modulating lens fiber cell communication and lens transparency.

03

Biological functions

Cell-cell communicationExchange of ions and small metabolitesLens fiber cell maturationLens transparency maintenanceRegulation of cell adhesion
04

Disease associations

Congenital cataracts (including zonular pulverulent cataracts and nuclear progressive cataracts)Cataract-microcornea syndromeMicrophthalmiaAphakiaSclerocorneaDevelopmental eye anomalies
05

Safety considerations

Therapeutic modulation of gap junction proteins may disrupt crucial physiological cell-cell communication in non-target tissues.Gene-editing carries potential risk for off-target effects.
06

Interacting drugs

No FDA-approved drugs directly target GJA8

2 more in the full profile.

07

Biomarkers

GJA8 mutation status (for congenital cataract diagnosis and genetic counseling)Expression levels of GJA8 in clinical genetic panels for ocular developmental disorders

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