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GJB3

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).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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