Gene: GJB6

Alternate names for this Gene: CX30|DFNA3|DFNA3B|DFNB1B|ECTD2|ED2|EDH|HED|HED2

Gene Summary: Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia.

Gene is located in Chromosome: 13

Location in Chromosome : 13q12.11

Description of this Gene: gap junction protein beta 6

Type of Gene: protein-coding

rs104894415 in GJB6 gene and DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) PMID 11017065 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia.

PMID 12419304 2002 Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

PMID 27817781 2016 [A gene study of a family with hidrotic ectodermal dysplasia].

PMID 23926005 2013 [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

PMID 24514865 2014 A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

PMID 15213106 2004 Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

PMID 23981984 2013 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

PMID 12788524 2003 A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

PMID 15769851 2005 Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

PMID 26551294 2016 Immune system disturbances in Clouston syndrome.

PMID 24685692 2014 The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.

PMID 27137747 2016 A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.

PMID 24522190 2014 Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.

PMID 14708603 2003 Clouston syndrome can mimic pachyonychia congenita.

PMID 23863883 2013 Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.

rs104894414 in GJB6 gene and Deafness, Autosomal Dominant 3B PMID 10471490 1999 Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

PMID 26551294 2016 Immune system disturbances in Clouston syndrome.

PMID 12788524 2003 A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

PMID 23981984 2013 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

PMID 23926005 2013 [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

PMID 24514865 2014 A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

PMID 15213106 2004 Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

PMID 27817781 2016 [A gene study of a family with hidrotic ectodermal dysplasia].

PMID 11017065 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia.

PMID 12419304 2002 Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

PMID 15769851 2005 Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

PMID 24685692 2014 The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.

PMID 24522190 2014 Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.

PMID 27137747 2016 A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.

PMID 14708603 2003 Clouston syndrome can mimic pachyonychia congenita.

PMID 23863883 2013 Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.

PMID 17259707 2007 Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

rs104894415 in GJB6 gene and Hidrotic Ectodermal Dysplasia PMID 27817781 2016 [A gene study of a family with hidrotic ectodermal dysplasia].

PMID 15769851 2005 Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

PMID 12788524 2003 A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

PMID 11874494 2002 A novel connexin 30 mutation in Clouston syndrome.

PMID 11017065 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia.

PMID 24514865 2014 A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

PMID 15213106 2004 Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

PMID 12419304 2002 Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

PMID 23926005 2013 [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

PMID 20536673 2010 G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.

PMID 23981984 2013 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

PMID 23219093 2013 We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome.

PMID 26551294 2016 Immune system disturbances in Clouston syndrome.

PMID 11874494 2002 Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome.

PMID 14708603 2003 Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome.

PMID 24522190 2014 Lastly, the A88V mutant, which is linked to the development of Clouston syndrome, also significantly induced apoptosis but through an endoplasmic-reticulum-independent mechanism.

PMID 24685692 2014 The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.

PMID 27137747 2016 A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.

PMID 23863883 2013 Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.

PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 16950989 2006 Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.