TXNDC14 _ TMX2 Clone 'N2C3 antibody
- Known as:
- TXNDC14 _ TMX2 Clone 'N2C3 (anti-)
- Catalog number:
- 'GTX114177
- Product Quantity:
- 0.1 ml
- Category:
- -
- Supplier:
- ACR
- Gene target:
- TXNDC14 _ TMX2 Clone 'N2C3 antibody
Related genes to: TXNDC14 _ TMX2 Clone 'N2C3 antibody
- Gene:
- TMX2 NIH gene
- Name:
- thioredoxin related transmembrane protein 2
- Previous symbol:
- TXNDC14
- Synonyms:
- PDIA12
- Chromosome:
- 11q12.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-10-04
- Date modifiied:
- 2016-02-01
Related products to: TXNDC14 _ TMX2 Clone 'N2C3 antibody
Related articles to: TXNDC14 _ TMX2 Clone 'N2C3 antibody
- Thioredoxin-related transmembrane protein 2 (TMX2)-related neurodevelopmental disorder (OMIM #618730) is an exceedingly rare autosomal recessive condition caused by biallelic pathogenic variants in , a gene encoding an endoplasmic reticulum (ER)-resident oxidoreductase involved in neuronal survival and cortical development. The condition is characterized by severe intellectual disability, microcephaly, spasticity, epilepsy, and cortical malformations, primarily polymicrogyria. We report a 13-month-old Moroccan male infant born to second-cousin consanguineous parents, presenting with severe global developmental delay, profound axial hypotonia, absent head control, and progressive microcephaly (head circumference 41 cm, < -3 standard deviation (SD)). Epilepsy was diagnosed at seven months of age and managed with valproic acid. Clinical examination revealed characteristic dysmorphic features, including microcephaly, a sloping forehead, bilateral strabismus, retrognathism, low-set ears and hairline, and bilateral second-third toe syndactyly - a feature not previously described in association with -related disorder. Brain MRI demonstrated bilateral frontoparietal polymicrogyria. Electroencephalography showed right hemispheric dysfunction with focal epileptic activity. Whole-exome sequencing identified a homozygous pathogenic missense variant in (NM_015959.4:c.614G>A; p.Arg205Gln), classified as pathogenic in ClinVar (VCV000804370), confirming the diagnosis. This case expands the phenotypic spectrum of -related disorder by documenting bilateral second-third toe syndactyly and highlights the diagnostic value of whole-exome sequencing in consanguineous families presenting with cortical malformations and severe neurodevelopmental delay. Early molecular diagnosis is essential for appropriate genetic counseling and multidisciplinary management. - Source: PubMed
Publication date: 2026/06/19
Baaziz AsmaeMdaghri Alaoui Asmaa - Ulcerative colitis (UC) remission is marked by gut microbiota restructuring, but how microbial metabolites influence immune-mediated tissue repair is unclear. Here, we demonstrate that oral vancomycin alleviates colitis symptoms in murine models, mirroring its clinical efficacy in inducing remission in patients with UC. Mechanistically, vancomycin's therapeutic effect is achieved by reducing deoxycholic acid (DCA). We reveal that DCA impairs mucosal repair driven by group 2 innate lymphoid cells (ILC2s) by inducing ER stress through direct binding to thioredoxin-related transmembrane protein 2 (TMX2). This interaction disrupts TMX2's role in protein folding, triggering unresolved unfolded protein response via hyperactivation of PERK/eIF2α signaling, which suppresses the production of pro-healing molecules by ILC2s. Pharmacological inhibition of PERK phosphorylation restores ILC2 function and accelerates colitis resolution. Our work uncovers a pathogenic microbiota/DCA/ILC2 axis that obstructs mucosal healing and positions vancomycin as a targeted strategy to eliminate DCA, thereby promoting UC remission. - Source: PubMed
Publication date: 2026/04/08
Tian QiuhengLiu HanGu XiangShen JingYuan XiZheng MengqiZhai YunjiaoChen YataiHan PenghuMa YangchunXin WeiMa HongyueLi YuWang SihanGuo LeiYuan DetianYu YanboLi Shiyang - Thioredoxin-related transmembrane proteins (TMXs) of the endoplasmic reticulum (ER) determine not only redox conditions within the ER lumen but also the formation and function of ER-mitochondria membrane contact sites (ERMCS). The presence of cytosolic, reactive oxygen species (ROS)-derived redox nanodomains at ERMCS suggests TMXs could also control these. The prime candidate for such a function is TMX2, the sole TMX family protein with a cytosolic thioredoxin domain. Indeed, TMX2 controls the extent of ERMCS through interaction with outer mitochondrial membrane proteins, including TOM70. Assisted by cytosolic peroxiredoxins, TMX2 moderates the sulfenylation of the TOM70 C residue. Thereby, TMX2 reduces mitochondrial Ca uptake and metabolism. Accordingly, mutation of the TMX2 gene in cells from a patient with a neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) results in hyperactive mitochondria. In a fly in vivo NEDMCMS model, TMX2 knockdown manifests predominantly in glial cells, where it prevents seizure-like behavior. - Source: PubMed
Publication date: 2025/10/31
Chen JunshengYap Megan CBassot ArthurPascual Danielle MMakio TadashiZimmermann JannikMast HeatherBhat RakeshFleury Samuel GFan YuxiangBuzatto Adriana ZardiniMoore JackBallanyi KlausLi LiangOverduin MichaelLemieux M JoanneLemieux HélèneMancini Grazia M SMorgan BruceMarcogliese Paul CSimmen Thomas - Biallelic variants in thioredoxin-related transmembrane 2 protein (TMX2) can cause a malformation of brain cortical development characterized by microcephaly, polymicrogyria and pachygyria by an unknown mechanism. To investigate and visualize how TMX2 loss disrupts brain development in vivo, we generated zebrafish deficient for TMX2 ortholog tmx2b, which during the first two developmental days showed normal brain developmental hallmarks. From 3 days onwards, however, tmx2b mutants had no locomotor activity; this was accompanied by cell death in the brain, but not in other organs or in the spinal cord. Strikingly, cell death in tmx2b mutants occurred specifically in post-mitotic neurons within a ∼1.5-h timeframe, whereas neuronal progenitor and radial glial cells were preserved, and could be suppressed by inhibiting neuronal activity. In vivo calcium imaging showed a persistent ∼2-fold increase in calcium in neurons after the onset of cell death. This suggests that calcium homeostasis underlies the tmx2b mutant brain phenotype. Our results indicate that TMX2 is an evolutionarily conserved, protective regulator essential specifically for post-mitotic neurons after their differentiation in the vertebrate embryonic brain. - Source: PubMed
Publication date: 2025/09/18
Dekker JordyLam Wendyvan der Linde Herma COphorst Florisde Konink CharlotteSchot RachelKremers Gert-JanSanderson Leslie EBerdowski Woutje Mvan Woerden Geeske MMancini Grazia M Svan Ham Tjakko J - The aim of this study was to find potential drug targets of osteoporosis (OP) through systematic druggable genome-wide Mendelian randomization (MR) analysis. - Source: PubMed
Publication date: 2025/06/07
Sun ChiyunLiu RuikangHu JiamingFan WeimingSun ChuanruiShan PengchengWei Xu