Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.
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The abstract reports human Cx26/Cx30 cochlear coexpression, which supplies expression context without directly proving auditory physiology.
"expressed in the same cells of the cochlea"
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
A novel connexin 30 mutation in Clouston syndrome.
Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
The DNA sequence and analysis of human chromosome 13.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30.
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
The role of the cytoskeleton in the formation of gap junctions by Connexin 30.
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The abstract reports cytoskeletal association with a negative control.
"Co-localization with and/or
interaction between Cx30 and microtubules and cortical actin filaments, but not
with the tight/adherens junction protein ZO-1"
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
The formation and function of the cardiac conduction system.
Blood-Brain Barrier: From Physiology to Disease and Back.
A reference map of the human binary protein interactome.
Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Combined Automated Annotation using Multiple IEA Methods
UniProtKB O95452 (CXB6_HUMAN): Gap junction beta-6 protein
GJB6 source scope, original contexts and sequence evidence
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.
Hearing is normal without connexin30.
Human connexin26 and connexin30 form functional heteromeric and heterotypic channels.