GJB2 _ Connexin 26
- Known as:
- GJB2 _ Connexin 26
- Catalog number:
- Y213629
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- GJB2 _ Connexin 26
Related genes to: GJB2 _ Connexin 26
- Gene:
- GJB2 NIH gene
- Name:
- gap junction protein beta 2
- Previous symbol:
- DFNB1, DFNA3
- Synonyms:
- CX26, NSRD1
- Chromosome:
- 13q12.11
- Locus Type:
- gene with protein product
- Date approved:
- 1990-02-12
- Date modifiied:
- 2019-04-23
Related products to: GJB2 _ Connexin 26
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: GJB2 _ Connexin 26
- Variants of at least twenty-seven human genes are associated with stable or progressive nonsyndromic moderate to severe hearing loss inherited as a recessive condition. We ascertained 54 consanguineous families, predominantly from the Punjab province in Pakistan, with multiple individuals affected by moderate to severe or progressively profound hearing loss. After Sanger sequencing identified 4 families with GJB2 variants or a non-coding pathogenic variant in HGF, exome sequencing was carried out for selected samples from the remaining 50 families. Analyses revealed a total of 24 novel and 33 reported variants in 26 different genes associated with hearing loss. Overall, there were 23 missense variants, 3 in-frame deletions and 1 intronic deletion, while 30 variants likely impacted splicing, introduced premature termination codons or caused frameshifts. Thus, over half of the alleles are predicted to severely impair gene function. Genetic heterogeneity was observed in members of 9 families. Variants of SLC26A4 were key contributors with a frequency of 30%, while those affecting CDH23, MYO15A, GJB2 and OTOF explained 28% of hearing loss. Our findings corroborate the contribution of many well-studied gene variants associated with hearing loss and also implicate LHFPL5 and PCDH15 in the etiology of moderate or progressive hearing loss. - Source: PubMed
Publication date: 2026/05/05
Ramzan MemoonaIdrees HafizaKhan HinaFaridi RabiaMunir ZunairaMuzaffar FarihaShabbir KanwalImtiaz AyeshaNoman MuhammadAhmed AlinaBashir RasheedaKhan Niaz MuhammadMaqsood AzraMujtaba GhulamSalman MidhatBukhari IhtishamMunir Hafiz Muhammad WaqasTariq HumaWaqas MuhammadIqbal Muhammad NWohler ElizabethWitmer P DaneSobreira NaraMorell Robert JSeo Go HunInagaki SayakaFriedman Thomas BNaz Sadaf - Hearing impairment is a highly prevalent sensory disorder resulting from a variety of causes. A high proportion of autosomal recessive non-syndromic hearing impairment is linked to the (OMIM 121011) gene which encodes for a gap junction protein, connexin-26. Alterations of genes that encode for connexins can lead to changes in cell ion content and cause hearing impairment. - Source: PubMed
Publication date: 2026/04/16
Kutija Fučkar IvaZajc Petranović MateaMartinović Klarić IrenaPeričić Salihović MarijanaBarać Lauc Lovorka - Carrier screening identifies individuals at risk of transmitting autosomal recessive or X-linked recessive conditions, supporting informed reproductive decisions. Despite international recommendations for universal carrier screening, integration into public healthcare systems remains limited. This study evaluated the feasibility of implementing a carrier screening program in Spain's public health system. - Source: PubMed
Publication date: 2026/05/04
Marsal-Olivan AinaSerra-Juhe ClaraArtigas-Baleri AliciaBernal SaraCusco IvonAbulí AnnaBrotons CarlosRodríguez-Santiago BenjamínSurralles Jordi - This study aimed to investigate the association between the heterozygous GJB2 p.V37I variant and susceptibility to sudden sensorineural hearing loss (SSNHL), and to explore its potential involvement in endoplasmic reticulum (ER) stress. - Source: PubMed
Publication date: 2026/04/28
Lien Kuang-HsuTsai Chia-LungLee Yun-ShienChen Tai-YuChao Wei-ChiehHu Chih-YuChang Po-HungTsai Chi-Neu - - Source: PubMed
Publication date: 2026/04/27
Xu HongjieZhang ChengzhiZhang XinyiZhang ShuyiZhou Guangjun