GJB3 encodes gap junction protein beta 3 (270 aa). One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell Highest expression in Skin Sun Exposed Lower leg (184.0 TPM) and Skin Not Sun Exposed Suprapubic (182.9 TPM).

Erythrokeratodermia variabilis et progressiva 1 is associated with mutations in the GJB3 gene on chromosome 1.

The GJB3 protein participates in Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathway.

GJB3 is classified as a druggable target (Ion Channel and Transporter categories) with score 8.7.

Genetic testing for GJB3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features.

No clinical trials have been registered for erythrokeratodermia variabilis et progressiva 1.

17 publications have been identified in PubMed for erythrokeratodermia variabilis et progressiva 1. Research spans Case Report / Case Series (35%), Review / Meta-Analysis (29%), and Other (24%).

Recent Publications

• Morikawa-Yujiri Y (2026). [PMID: 42173623](https://pubmed.ncbi.nlm.nih.gov/42173623/). *J Pharmacol Sci*. [Basic Science / Preclinical]

• Aghajani M (2026). [PMID: 41065394](https://pubmed.ncbi.nlm.nih.gov/41065394/). *J Eur Acad Dermatol Venereol*. [Review / Meta-Analysis]

• Hua S (2026). [PMID: 41296677](https://pubmed.ncbi.nlm.nih.gov/41296677/). *Clin Exp Dermatol*. [Case Report / Case Series]

• Saito N (2026). [PMID: 41589029](https://pubmed.ncbi.nlm.nih.gov/41589029/). *J Dermatol*. [Other]

• Ren W (2026). [PMID: 41814845](https://pubmed.ncbi.nlm.nih.gov/41814845/). *J Dermatol*. [Other]

• Chouk C (2026). [PMID: 31082124](https://pubmed.ncbi.nlm.nih.gov/31082124/). *Unknown Journal*. [Review / Meta-Analysis]

• Chang CY (2025). [PMID: 39497469](https://pubmed.ncbi.nlm.nih.gov/39497469/). *Clin Exp Dermatol*. [Case Report / Case Series]

• Wei Z (2025). [PMID: 38831602](https://pubmed.ncbi.nlm.nih.gov/38831602/). *J Dermatol*. [Other]

• Lucaciu SA (2025). [PMID: 39817844](https://pubmed.ncbi.nlm.nih.gov/39817844/). *J Physiol*. [Basic Science / Preclinical]

• Ma Y (2025). [PMID: 41186431](https://pubmed.ncbi.nlm.nih.gov/41186431/). *Dermatol Reports*. [Case Report / Case Series]