Sequence in raw or FASTA format:
GJB6 gap junction protein, beta 6, 30kDa [Homo sapiens (human)]
|Entrez Gene ID||10804|
|Full Name||gap junction protein, beta 6, 30kDa|
|Synonyms||CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2|
|General protein information||
|Organism||Homo sapiens (human)|
|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. [provided by RefSeq, Jul 2008].|
Deafness, autosomal dominant 3B, 612643 (3); Ectodermal dysplasia,
|WP536||Calcium Regulation in the Cardiac Cell|
|REACT_9411||Gap junction trafficking|
|REACT_9480||Gap junction trafficking and regulation|
|REACT_9509||Gap junction assembly|
|Homo sapiens (human)||GJB6||NP_006774.2|
|Pan troglodytes (chimpanzee)||GJB6||XP_003314112.1|
|Macaca mulatta (Rhesus monkey)||GJB6||XP_001086965.2|
|Canis lupus familiaris (dog)||GJB6||XP_005635624.1|
|Bos taurus (cattle)||GJB6||NP_001015546.1|
|Mus musculus (house mouse)||Gjb6||NP_001010937.1|
|Rattus norvegicus (Norway rat)||Gjb6||NP_445840.1|
|Gallus gallus (chicken)||GJB6||NP_990262.1|
|Danio rerio (zebrafish)||cx30.3||NP_997990.2|
|Xenopus (Silurana) tropicalis (western clawed frog)||gjb2||NP_001016984.1|
|GO:0007605||sensory perception of sound||IEA|
|GO:0008285||negative regulation of cell proliferation||IEA|
|GO:0048839||inner ear development||IEA|
|GO:0016021||integral component of membrane||IEA|
|GO:0016324||apical plasma membrane||IEA|
What is the normal function of the GJB6 gene?
The GJB6 gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions, which permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells. The size of the gap junction and the types of particles that move through it are determined by the particular connexin proteins that make up the channel. Gap junctions made with connexin 30 transport potassium ions and certain small molecules.
Connexin 30 is found in several different tissues throughout the body, including the brain, inner ear, skin (especially on the palms of the hands and soles of the feet), hair follicles, and nail beds. Because of its presence in the inner ear, researchers are interested in this protein's role in hearing. Hearing requires the conversion of sound waves to electrical nerve impulses. This conversion involves many processes, including maintaining the proper level of potassium ions in the inner ear. Some studies indicate that gap junctions made with connexin 30 help to maintain the correct level of potassium ions.
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