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GJB6 gap junction protein, beta 6, 30kDa [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001110219 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001110220 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_001110221 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $449.00 14
NM_006783 Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $449.00 14

*Business Day

Related Services

Gene Symbol GJB6
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
Preferred Names
gap junction beta-6 protein
Names
gap junction beta-6 protein
connexin 30
connexin-30
gap junction protein, beta 6 (connexin 30)
ectodermal dysplasia 2, hidrotic (Clouston syndrome)
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

13

13q12

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].
Disorder

MIM: 604418

Deafness, autosomal dominant 3B, 612643 (3); Ectodermal dysplasia,

mRNA Protein Product Sequence Price Select
NM_001110219, 194306616 NP_001103689, 159032020 gap junction beta-6 protein ORF Sequence $300.00
NM_001110220, 194306615 NP_001103690, 158966714 gap junction beta-6 protein ORF Sequence $300.00
NM_001110221, 194306614 NP_001103691, 158966717 gap junction beta-6 protein ORF Sequence $300.00
NM_006783, 194306613 NP_006774, 40254837 gap junction beta-6 protein ORF Sequence $300.00
WikiPathways
WP536Calcium Regulation in the Cardiac Cell
Reactome
REACT_9411Gap junction trafficking
REACT_9480Gap junction trafficking and regulation
REACT_9509Gap junction assembly
REACT_11123Membrane Trafficking
Homo sapiens (human)GJB6NP_006774.2
Pan troglodytes (chimpanzee)GJB6XP_003314112.1
Macaca mulatta (Rhesus monkey)GJB6XP_001086965.2
Canis lupus familiaris (dog)GJB6XP_005635624.1
Bos taurus (cattle)GJB6NP_001015546.1
Mus musculus (house mouse)Gjb6NP_001010937.1
Rattus norvegicus (Norway rat)Gjb6NP_445840.1
Gallus gallus (chicken)GJB6NP_990262.1
Danio rerio (zebrafish)cx30.3NP_997990.2
Xenopus (Silurana) tropicalis (western clawed frog)gjb2NP_001016984.1
Process
IDNameEvidence
GO:0006915apoptotic processIEA
GO:0007154cell communicationIEA
GO:0007605sensory perception of soundIEA
GO:0008285negative regulation of cell proliferationIEA
GO:0042471ear morphogenesisIEA
GO:0048839inner ear developmentIEA
Component
IDNameEvidence
GO:0005829cytosolIEA
GO:0005922connexon complexIEA
GO:0016021integral component of membraneIEA
GO:0016324apical plasma membraneIEA
GeneCards GJB6
UniProt O95452
Vega OTTHUMG00000016515
MIM 604418
Ensembl ENSG00000121742
HGNC 4288
HPRD 05107

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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