Meyahealth
HomeGeneticsGeneGJB6 gene
Back to Gene
GJB6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GJB6 gene

The GJB6 gene provides instructions for making the connexin 30 protein, which is essential for forming gap junctions that facilitate cellular communication and maintain potassium levels in the inner ear.

Normal Function

The GJB6 gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. This protein is a member of the connexin protein family, which forms channels called gap junctions. These channels permit the transport of nutrients, charged atoms (ions), and signaling molecules between adjoining cells. The specific connexin proteins present determine the size of the gap junction and the types of particles that can move through it. Gap junctions made with connexin 30 are responsible for transporting potassium ions and certain small molecules.

Connexin 30 is found in various tissues, including the brain, inner ear, skin (specifically the palms of the hands and soles of the feet), hair follicles, and nail beds. In the inner ear, this protein plays a critical role in hearing by helping to maintain the proper level of potassium ions, which is necessary for converting sound waves into electrical nerve impulses.

Health Conditions Related to Genetic Changes

Clouston syndrome

At least four GJB6 gene mutations have been identified in individuals with Clouston syndrome, also known as hidrotic ectodermal dysplasia 2. These mutations alter single amino acids in the connexin 30 protein, leading to abnormalities in the growth, division, and maturation of cells in the skin, nails, and hair follicles. Characteristics of this condition include:

  • Fingernail abnormalities
  • Hair loss
  • Thickened skin on the palms of the hands and soles of the feet

Nonsyndromic hearing loss

The GJB6 gene is also associated with nonsyndromic hearing loss.

Other Names for This Gene

  • CX30
  • CXB6_HUMAN
  • DFNA3
  • ED2
  • EDH
  • gap junction protein, beta 6
  • gap junction protein, beta 6, 30kDa
  • HED

Frequently Asked Questions

The connexin 30 protein, encoded by the GJB6 gene, is crucial for maintaining proper potassium ion levels in the inner ear. These potassium ions are essential for converting sound waves into electrical nerve impulses. Mutations in GJB6 can disrupt the formation or function of gap junctions, impairing potassium transport and leading to the dysfunction of hair cells in the inner ear, which results in hearing loss.
Management of Clouston syndrome focuses on addressing individual symptoms. Hair loss can sometimes be managed with wigs or hairpieces. Nail abnormalities may require specialized nail care. Thickened skin on the palms and soles can be treated with topical emollients and keratolytics to soften and reduce the skin thickness. Hearing loss may be managed with hearing aids or cochlear implants, depending on its severity.
Clouston syndrome, caused by GJB6 gene mutations, primarily affects the skin, hair, and nails. Key characteristics include abnormalities of the fingernails and toenails, hair loss (alopecia), and thickened skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis). Some individuals may also experience hearing loss.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ