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GJB3
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For Research Use Only. Not For Clinical Use.
This gene is a member of the 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. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Transporters
Predicted location
Membrane
Single cell type specificity
Group enriched (Urothelial cells, Suprabasal keratinocytes, Basal keratinocytes, Pancreatic endocrine cells, Squamous epithelial cells, Basal prostatic cells, Prostatic glandular cells, Basal respiratory cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (A-431, CAPAN-2, HaCaT, HBEC3-KT, hTCEpi, OE19)
Interaction
A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).
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