Connexin 30 _ GJB6
- Known as:
- Connexin 30 _ GJB6
- Catalog number:
- Y214389
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- Connexin 30 _ GJB6
Related genes to: Connexin 30 _ GJB6
- Gene:
- GJB6 NIH gene
- Name:
- gap junction protein beta 6
- Previous symbol:
- DFNA3, ED2
- Synonyms:
- EDH, HED, CX30
- Chromosome:
- 13q12.11
- Locus Type:
- gene with protein product
- Date approved:
- 1999-07-30
- Date modifiied:
- 2016-10-05
Related products to: Connexin 30 _ GJB6
37, 40 GAP26, Connexin Mimetic37,43Gap 27, Connexin Mimetic40Gap 27, Connexin Mimetic40Gap 27, Connexin Mimetic40Gap 27, Connexin Mimetic43Gap 26, Connexin Mimetic43Gap 26, Connexin Mimetic43Gap 26, Connexin Mimetic43Gap 26, Connexin Mimetic Peptide Anserine ConnexinAnserine Connexin 26 Elisa Kit (CX26)Anserine Connexin 31 Elisa Kit (CX31)Anserine Connexin 37 Elisa Kit (CX37)Anserine Connexin 40 Elisa Kit (CX40)Anserine Connexin 43 Elisa Kit (CX43) Related articles to: Connexin 30 _ GJB6
- - Source: PubMed
- Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in genes involved in skin development. More than 60 different genes involved in the development of palmoplantar keratoderma have been described. Here, we investigated a female Labrador Retriever showing hyperkeratosis on all four paw pads and most digital pads. Histologically, the stratum corneum was expanded by predominantly orthokeratotic hyperkeratosis with occasional mild parakeratotic areas. DNA of the affected dog was isolated from EDTA-blood and whole genome sequencing was performed. Comparison of the whole genome sequencing data to 1664 unaffected control dogs revealed a private de novo heterozygous missense variant in the GJB6 gene which was not present in the parents. GJB6 encodes connexin 30, a subunit of the desmosome. In humans, pathogenic variants in this gene cause isolated deafness or Clouston syndrome, an autosomal dominant condition that is characterized by alopecia, nail dystrophy, and palmoplantar hyperkeratosis. The paw pad hyperkeratosis phenotype in the investigated dog shows similarities to Clouston syndrome and strongly suggests that the GJB6 missense variant is responsible for its condition. However, our investigation also highlights differences between human and dog that could provide deeper insights into the function of GJB6. - Source: PubMed
Rietmann Stefan JMalatos JosephJagannathan VidhyaLeeb Tosso - The expression patterns of key membrane pumps and ion channels involved in endolymph cycling have been studied in the rodent inner ear and the developing and adult human cochlea. However, little is known about their expression during the development of the human vestibular system. In this study, we provide a comprehensive overview of expression profiles of ion pumps, cotransporters, and exchangers in the developing human utricle and ampullae from fetal week (FW) 8 to 17. Immunohistochemistry analysis revealed that ATP1A1 and ATP1B2 co-localize at the basolateral membranes of dark cells. In addition, BSND expression was observed in transitional cells and dark cells in both the ampulla and utricle from FW10. We further characterized the expression of gap junction proteins (GJA1, GJB2, and GJB6) and found that KCNQ1 was expressed by transitional cells and dark cells starting from FW14. SLC12A2 immunostaining was detected in dark cells around FW10. Lastly, we investigated the spatiotemporal expression of pendrin. These detailed observations of protein expression during human inner ear development enhance our understanding of endolymph homeostasis. - Source: PubMed
van Beelen Edward S Avan der Valk Wouter Hde Groot John C M Jvan Benthem Peter Paul GLocher Heiko - This review integrates molecular, clinical, and translational data to provide an updated understanding of -related deafness and its emerging treatment landscape. Truncating mutations in typically cause severe-profound hearing loss (HL) phenotypes, whereas non-truncating alleles are often associated with milder or progressive phenotypes. Geographic variation in variant prevalence contributes to regional differences in disease burden. Beyond the coding region, deletions and cis-regulatory mutations within the DFNB1 locus, including and , can influence HL severity when compounded with other pathogenic variants. DFNB1 hearing loss generally presents as symmetric, bilateral, and flat to gently sloping across frequencies, with preserved cochlear neurons that support excellent cochlear implant (CI) outcomes. Early implantation CI in -positive children yields superior speech and language development compared with non- etiologies. Emerging therapies include dual-AAV (AAV1 + AAV-ie/ScPro) delivery, achieving cell-specific Cx26 restoration, adenine base-editing for dominant-negative variants, and allele-specific suppression using RNA interference or antisense oligonucleotides. Concurrent progress in human iPSC-derived cochlear organoids provides a physiologic model to advance toward clinical trials. By integrating genotype-phenotype correlations, natural history insights, and advances in molecular therapeutics, this review presents a comprehensive update on -related HL and highlights how gene-based strategies are poised to change the treatment of this condition. - Source: PubMed
Publication date: 2026/01/03
Morris Julia AnneGonzalez TomasBlanton Susan HAngeli Simon IgnacioLiu Xue Zhong - Auditory brainstem response (ABR) tests have demonstrated that the peripheral auditory sensitivity of the red-eared slider () exhibits seasonal variation, with enhanced sensitivity observed in spring compared to winter. However, the molecular mechanisms underlying these seasonal shifts remain unclear. - Source: PubMed
Publication date: 2025/11/25
Lu NingningWang TongliangZhai XiaofeiWang Jichao