Gene Information
gap junction protein beta 6 [Source:HGNC Symbol;Acc:HGNC:4288]
GJB6 variants are associated with 4 diseases including Clouston syndrome and KID syndrome and 2 others, with 43 documented clinical phenotypes.
The GJB6 gene is associated with 4 medical conditions, including:
Research has identified 43 phenotypic features associated with GJB6 variants:
Abnormal foot morphology
HP:0001760
Hearing impairment
HP:0000365
Autosomal recessive inheritance
HP:0000007
Small nail
HP:0001792
Progressive sensorineural hearing impairment
HP:0000408
Palmoplantar hyperkeratosis
HP:0000972
Absent axillary hair
HP:0002221
Onycholysis
HP:0001806
Hyperpigmentation of the skin
HP:0000953
Sensorineural hearing impairment
HP:0000407
Alopecia
HP:0001596
Conjunctivitis
HP:0000509
Mixed hearing impairment
HP:0000410
Abnormality of the hand
HP:0001155
Autosomal dominant inheritance
HP:0000006
ClinVar contains 10 variants associated with GJB6. Below are some notable variants:
NC_000013.11:g.20223040_20531805del
PathogenicVCV004526715
Review: criteria provided, single submitter
GRCh37/hg19 13q12.11(chr13:20796982-21104487)x1
PathogenicVCV004279444
Review: criteria provided, single submitter
GRCh37/hg19 13q12.11(chr13:19748003-22275574)x1
PathogenicVCV004083504
Review: criteria provided, single submitter
NM_001110219.3(GJB6):c.287C>T (p.Ala96Val)
Uncertain significanceVCV004074626
Review: criteria provided, single submitter
NM_001110219.3(GJB6):c.250G>A (p.Val84Ile)
Uncertain significanceVCV003573748
Review: criteria provided, single submitter
There are 115 publications about GJB6 indexed in PubMed. Below are some recent papers:
Promotion of a new gap junction gene Cx46 (GJA3) expression in the cochlea after Cx26 (GJB2) deficiency.
Zhai TY, Chen J, Kong Y
PMID: 41115329
•
2025 Oct 16
•
Hear Res
Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result.
Rossell A, Soler-Garcia A, Martorell L
PMID: 40504319
•
2025 Jun 12
•
Eur J Pediatr
SUMOylation-regulated genes in colon cancer: expression patterns and clinical implications.
Peng W, Yang Z, Yan R
PMID: 40394398
•
2025 May 20
•
Discov Oncol
Specific Adaptive Mechanisms in Water-Sodium Regulation in a Desert Rodent Fed With Salty Diets.
Yang XZ, Wang CZ, Wang DH
PMID: 40375467
•
2025 Jun
•
Compr Physiol
A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene.
Elmakhzen B, Rollier P, Saillard C
PMID: 40369851
•
2025 May
•
Mol Genet Genomic Med
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Last updated: 11/20/2025