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Gap junction protein gamma 2 (GJC2)
- Target
- GJC2
- Molecular classification
- Ion channel (specifically, gap junction channel), Connexin family protein, Cell junction protein
01
Overview
Gap junction protein gamma 2 (GJC2), more commonly known as Connexin-47, is a member of the connexin protein family that forms gap junction channels between cells, allowing the passage of ions, nutrients, and small molecules. It is mainly expressed in oligodendrocytes of the central nervous system, where it plays a key role in the formation and maintenance of myelin, essential for rapid neuronal signaling. Mutations in GJC2 are linked to demyelinating disorders such as Pelizaeus-Merzbacher-like disease type 1, spastic paraplegia type 44, and hereditary lymphedema, highlighting its crucial function in nervous system integrity and lymphatic biology[1][2][3].
- Other names
- Connexin-47Connexin-46.6CX47CX46.6GJA12Gap junction alpha-12 proteinGap junction protein, gamma 2, 47kDaSPG44LMPH1CLMPHM3PMLDARHLD2
02
Biological functions
Intercellular communication (via forming gap junctions between cells)Support of myelination (especially in the central nervous system)Facilitates rapid transmission of nerve impulsesRegulation of cell signaling (transport of ions and small molecules between cells)Metabolic support to neuronsMaintenance of tissue and cellular homeostasis
03
Disease associations
Leukodystrophy (including Pelizaeus-Merzbacher-like disease type 1)Hereditary lymphedemaSpastic paraplegia type 44Other inherited demyelinating diseases
04
Safety considerations
Potential consequence of targeting: interference with myelination and gap junction communication in the central nervous system[1][2].Loss-of-function mutations can cause severe neurological dysfunction and lymphatic disease[1][2].
05
Biomarkers
Mutations in GJC2/Connexin-47 are used as genetic biomarkers for Pelizaeus-Merzbacher-like disease type 1 and some forms of hereditary lymphedema[1][2].
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