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Gap junction beta-6 protein (GJB6), also known as connexin 30 (Cx30) — is a protein that in humans is encoded by the GJB6 gene. Connexin 30 (Cx30) is one of several gap junction proteins expressed in the inner ear. Mutations in gap junction genes have been found to lead to both syndromic and nonsyndromic deafness. Mutations in this gene are associated…
Function, Clinical significance & Overview
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cx30 connexin gap junction 30 found cx26 protein bp gene expression cells chr human band channels connexins cell mice mouse
| Subject | Predicate | Object | Confidence | Src |
|---|---|---|---|---|
| GJB6 | Aliases | GJB6, CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, gap junction protein beta 6 | 1.00 | infobox |
| GJB6 | Band | 13q12.11 | 1.00 | infobox |
| GJB6 | Band | 14 C3|14 30.1 cM | 1.00 | infobox |
| GJB6 | Bgee | skin of arm | 1.00 | infobox |
| GJB6 | Bgee | gums | 1.00 | infobox |
| GJB6 | Bgee | gingival epithelium | 1.00 | infobox |
| GJB6 | Bgee | human penis | 1.00 | infobox |
| GJB6 | Bgee | vulva | 1.00 | infobox |
| GJB6 | Bgee | mucosa of pharynx | 1.00 | infobox |
| GJB6 | Bgee | oral cavity | 1.00 | infobox |
| GJB6 | Bgee | skin of thigh | 1.00 | infobox |
| GJB6 | Bgee | body of tongue | 1.00 | infobox |
| GJB6 | Bgee | skin of hip | 1.00 | infobox |
| GJB6 | Bgee | utricle | 1.00 | infobox |
| GJB6 | Bgee | stria vascularis | 1.00 | infobox |
| GJB6 | Bgee | transitional epithelium of urinary bladder | 1.00 | infobox |
| GJB6 | Bgee | deep cerebellar nuclei | 1.00 | infobox |
| GJB6 | Bgee | vestibular membrane of cochlear duct | 1.00 | infobox |
| GJB6 | Bgee | mammillary body | 1.00 | infobox |
| GJB6 | Bgee | cerebellar cortex | 1.00 | infobox |
| GJB6 | Bgee | vestibular sensory epithelium | 1.00 | infobox |
| GJB6 | Bgee | lumbar subsegment of spinal cord | 1.00 | infobox |
| GJB6 | Bgee | medial vestibular nucleus | 1.00 | infobox |
| GJB6 | BioGPS | n/a | 1.00 | infobox |
| GJB6 | Chr. | Chromosome 13 (human) | 1.00 | infobox |
| GJB6 | Chr. | Chromosome 14 (mouse) | 1.00 | infobox |
| GJB6 | Databases | NCBI: entry; OMA: entry | 1.00 | infobox |
| GJB6 | End | 20,232,365 bp | 1.00 | infobox |
| GJB6 | End | 57,371,068 bp | 1.00 | infobox |
| GJB6 | Ensembl | ENSG00000121742 | 1.00 | infobox |
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