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Description
The GJB2 gene encodes a member of the gap junction protein family. Gap junctions are large-diameter channels made up of 2 hemichannels–each composed of 6 connexin subunits–on opposing membranes that join through hydrophobic interactions and form an aqueous pore between the cytoplasm of 2 adjacent cells. GJB2 is a gap junction subunit expressed in the developing cortex (Elias et al., 2007).
External Information
Click here for more information about the GJB2 whole gene NGS genetic test.Additional information
Samples | EDTA |
---|---|
Method of testing | Sanger/NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 1 |
Genes / Chromosomes / SNPs | GJB2 |
Related diseases | |Deafness with keratopachydermia and constrictions of fingers and toes|Deafness, autosomal dominant type 3A|Deafness, autosomal recessive type 1A|Keratitis ichthyosis deafness syndrome autosomal dominant|Keratoderma, palmoplantar, with deafness|Knuckle pads and leukonychia sensorineural deafness |
External Information | Click here for more information about the GJB2 whole gene NGS genetic test. |