GJA8 _ Cx50
- Known as:
- GJA8 _ Cx50
- Catalog number:
- ARP36612_P050
- Product Quantity:
- 50 µg
- Category:
- -
- Supplier:
- ACR
- Gene target:
- GJA8 _ Cx50
Related genes to: GJA8 _ Cx50
- Gene:
- GJA8 NIH gene
- Name:
- gap junction protein alpha 8
- Previous symbol:
- CAE1, CZP1, CAE
- Synonyms:
- CX50
- Chromosome:
- 1q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1995-11-29
- Date modifiied:
- 2016-10-05
Related products to: GJA8 _ Cx50
anti-GJA8anti-GJA8anti-GJA8 type: Primary antibodies host: MouseAnti-Mouse Connexin 50 (Cx50) Antiserum #1Anti-Mouse Connexin 50 (Cx50) IgG #1, aff pureAnti_Mouse Connexin 50 (Cx50) Antiserum 1Anti_Mouse Connexin 50 (Cx50) IgG 1, aff pureChicken Gap junction alpha-8 protein(GJA8) ELISA kitChicken Gap junction alpha-8 protein(GJA8) ELISA kit SpeciesChickenChicken gap junction protein, alpha 8, 50kDa (GJA8) ELISA kit, Species Chicken, Sample Type serum, plasmaChicken,Connexin-45.6,Cx45.6,Gallus gallus,Gap junction alpha-8 protein,GJA8Connexin 50 (GJA8) Antibody (C-term) Purified Rabbit Polyclonal Antibody (Pab) Applications WB, IHC, EConnexin 50 (GJA8) Antibody (C_term)Connexin 50 (GJA8) Antibody (N-term) Purified Rabbit Polyclonal Antibody (Pab) Applications WB, EConnexin 50 (GJA8) Antibody (N_term) Related articles to: GJA8 _ Cx50
- To clarify the molecular and clinical characteristics of anterior-segment dysgenesis (ASD)/aniridia and microphthalmia/anophthalmia caused by monogenic variants. - Source: PubMed
Publication date: 2026/07/28
Nishina SachikoAnzai HazukiYoshida TomoyoKoyanagi YoshitoKamada SayakaKato KumikoTorii KaorukoHikoya AkikoKondo MineoSotozono ChieMatsubara KeikoFukami Maki - Microphthalmia, anophthalmia and ocular coloboma (MAC) are rare developmental eye disorders. Although over 100 causative genes have been identified, the molecular spectrum and genotype-phenotype correlations remain incompletely understood, particularly in genetically diverse populations. We set out to molecularly characterize MAC in the Israeli population. Forty-seven MAC-affected individuals from 43 unrelated families were enrolled. DNA of all probands was subjected to whole exome sequencing. The most common phenotype was microphthalmia (64% of patients). Definite or possible molecular diagnoses were achieved in 13/43 probands (30%) and involved 10 different genes (, , , , , , , , , and ). An in vitro splicing assay was used to explore the pathogenicity of a variant in the gene. Following stringent filtering of exome data, 226 rare possibly pathogenic variants were identified in 218 genes not previously associated with MAC. The rate of molecular diagnosis achieved in this Israeli MAC cohort is similar to the reported range in other studies. The results further demonstrate the genetic heterogeneity of MAC, while supporting the involvement of complex inheritance and/or environmental factors in many of the cases. Further studies are required to reveal these underlying etiological factors, and to support the novel genotype-phenotype associations suggested here. - Source: PubMed
Publication date: 2026/08/21
Rabinovich YakovVardizer YoavPincovich ShirleyWolowelsky MarvaKulyamzin SofiaEhrenberg MiriamZayit-Soudry ShiriMan Peles InbalLeibu RinaGoldenberg-Cohen NitzaBen-Yosef Tamar - Precise post-transcriptional regulation of gene expression is essential for vertebrate lens development. Disruption of the gene encoding the RNA-binding protein CELF1 leads to early-onset cataract in mice. Here, using iCLIP-seq in lenses, we mapped transcriptome-wide CELF1-binding sites, revealing interactions with the 3'UTRs of key transcripts involved in lens development and pathology like Gja8, , Maf, Pax6, or Prox1. Integrated analysis with transcriptomic data and luciferase reporter assays demonstrated that binding of CELF1 protein represses its target mRNAs by destabilizing transcripts and/or inhibiting their translation. Indeed, the cataract-linked genes and are upregulated in -cKO lenses. In , overexpression of maf resulted in abnormal lens structure and eye morphology, confirming the developmental relevance of CELF1-mediated repression. Our findings uncover a post-transcriptional network in which CELF1 controls lens morphogenesis by limiting the expression of critical genes at the mRNA level to achieve their proper dosage. - Source: PubMed
Publication date: 2026/08/05
Viet JustineDuot MatthieuMéreau AgnèsAudic YannJan IwanReboutier DavidGoff-Gaillard Catherine LeCoomson Sarah YLachke Salil AGautier-Courteille CarolePaillard Luc - ATG16L1 (autophagy related 16 like 1) is a core macroautophagy/autophagy protein essential for autophagosome formation. It also functions in non-canonical autophagy pathways such as LC3-associated phagocytosis (LAP) and in other processes including immunity, inflammation, and membrane trafficking. This review synthesizes recent advances and proposes that ATG16L1 functions as a central molecular integrator governed by a multi-layered regulatory code. This framework includes genetic polymorphisms, transcriptional control, and diverse post-transcriptional and post-translational mechanisms. We detail how these regulatory layers collectively fine-tune ATG16L1 function in response to cellular stress. Dysregulation of this network contributes broadly to human diseases including inflammatory bowel disease, cancer, and neurodegenerative disorders. Notably, the functional impact of specific regulatory events is highly context dependent, a principle exemplified by the Crohn disease-associated T300A polymorphism. Deciphering this regulatory landscape and its crosstalk with both autophagy-dependent and autophagy-independent functions positions ATG16L1 as a pivotal node in cellular homeostasis and as an emerging therapeutic target. ATG: autophagy related; CASM: conjugation of Atg8-family proteins to single membranes; CCD: coiled-coil domain; CEBPA/CEBPα: CCAAT enhancer binding protein alpha; CHUK/IKKA: component of inhibitor of nuclear factor kappa B kinase complex; circRNA: circular RNA; CPT1A: carnitine palmitoyltransferase 1A; CREB: cAMP responsive element binding protein; CSNK2: casein kinase 2; FTO: FTO alpha-ketoglutarate dependent dioxygenase; GJA8/connexin 50: gap junction protein alpha 8; H/R: hypoxia-reoxygenation; HDAC: histone deacetylase; KAT2B/PCAF: lysine acetyltransferase 2B; KDM1A: lysine demethylase 1A; LAP: LC3-associated phagocytosis; lncRNA: long non-coding RNA; LRRK2: leucine rich repeat kinase 2; mA: N6-methyladenosine; MAP1LC3/LC3: microtubule associated protein 1 light chain 3; miRNA/MIR: microRNA; Mtb: ; ncRNA: non-coding RNA; PE: phosphatidylethanolamine; PI3K: phosphoinositide 3-kinase; PRKA/PKA: protein kinase cAMP-activated; PPP1: protein phosphatase 1; RAB33B: RAB33B, member RAS oncogene family; RB1CC1/FIP200: RB1 inducible coiled-coil 1; SETD7: SET domain containing 7, histone lysine methyltransferase; SQSTM1/p62: sequestosome 1; TNF/TNF-α: tumor necrosis factor; ULK: unc-51 like autophagy activating kinase; V-ATPase: vacuolar-type H-translocating ATPase; VDR: vitamin D receptor; WIPI2B: WD repeat domain, phosphoinositide interacting 2B; YTHDF2: YTH N6-methyladenosine RNA binding protein F2; ZDHHC7: zDHHC palmitoyltransferase 7. - Source: PubMed
Publication date: 2026/05/14
Wei FujingLiu ZhenzhenYu XiaoyingSun YinqiZhao YuanyuanWang YuFeng ZilingZhao XiaozhuKe XiaoxueYang AiminCui Hongjuan - The aim of this study was to gain insight into the molecular spectrum of anophthalmia and microphthalmia (A/M) in the Egyptian population. - Source: PubMed
Publication date: 2026/01/20
Elmakkawy GehadNabil AmiraNabil KarimAmin Asmaa KenawyMaskill DavidAli ManirSchorderet DanielBayoumi NaderShakankiri NihalAbdalla Ebtesam