Ask about this productRelated genes to: TMEM127 antibody
- Gene:
- TMEM127 NIH gene
- Name:
- transmembrane protein 127
- Previous symbol:
- -
- Synonyms:
- FLJ20507, FLJ22257
- Chromosome:
- 2q11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-02-13
- Date modifiied:
- 2019-04-23
Related products to: TMEM127 antibody
Related articles to: TMEM127 antibody
- This article summarizes hereditary conditions associated with adrenal tumors, emphasizing the importance of germline genetic testing in patients with adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL). ACC is strongly linked to syndromes such as Li-Fraumeni, Lynch, and Beckwith-Wiedemann, while PPGL has one of the highest hereditary rates among endocrine tumors, often involving SDHx genes and other susceptibility genes, including VHL, RET, NF1, MAX, and TMEM127. The article outlines clinical features, gene-specific risks, management considerations, and evolving surveillance guidelines. Identifying hereditary predispositions improves patient care, guides targeted surveillance, and allows cascade testing for at-risk family members. - Source: PubMed
Publication date: 2026/02/26
Greenberg Samantha ESkefos Catherine MVagher Jennie - Pheochromocytomas and paragangliomas (PPGLs) are rare, genetically diverse tumors originating from the adrenal medulla or extra-adrenal paraganglia, respectively. It is critically important to establish the pathogenic status of genetic variants, especially for the 35-40% patients carrying a germline change, as it impacts patient management and family surveillance. However, determining the clinical impact of variants of uncertain significance (VUS) remains challenging and requires additional testing. This is especially relevant for genes for which limited functional information is available, such as the gene. We recently reported that loss of promotes RET accumulation by reducing its degradation. - Source: PubMed
Publication date: 2026/02/19
Estrada-Zuniga CynthiaLiang RuiLandry BethanyAlvarez AndreaGonzalez-Cantu HectorNascimento da Conceição VivianeTrevino RolandoGius DavidAsa Sylvia LPowers JamesProdanov TamaraVaidya AnandToledo Rodrigo ABayley Jean-PierreCohen Debbie LTischler Arthur SPacak KarelLi FaqianDahia Patricia L M - We describe the case of a woman in her late 30s presenting with signs and symptoms of catecholamine excess and asymmetric bilateral adrenal lesions. Initial genetic testing was negative, including analysis of RET, VHL, SDH genes, TMEM127, and MAX. She underwent right cortical-sparing adrenalectomy, which normalized biochemical markers and blood pressure. One year later, she developed recurrent catecholamine excess, and repeat genetic analysis identified a germline pathogenic variant in MAX. Functional imaging confirmed a contralateral adrenal lesion, raising considerations regarding oncological safety versus adrenal preservation. This case highlights the complexity of hereditary pheochromocytoma/paraganglioma syndromes and illustrates how evolving genetic testing can influence surgical decision-making. - Source: PubMed
Publication date: 2025/11/23
Carmona Alexandrino HenriqueMartins Fernandes AndreiaGodinho RicardoCastelo Branco NoémiaMartins Raquel - Hyperthyroidism and atrial fibrillation (AF) are interrelated conditions with significant cardiovascular impact. While their clinical association is established, the molecular mechanisms remain unclear. Identifying shared biomarkers and pathways can advance understanding and guide therapy. - Source: PubMed
Publication date: 2025/11/20
Wang LinyuanYang KunKang RuilongLiu PengboDeng Yongzhi - The NEDD4-like E3 ubiquitin ligase, WWP2, is involved in a range of host processes from cell differentiation to T cell immunity. Ligase activity is tightly regulated, with WWP2 being held in an autoinhibited state. The binding of a PY motif-containing adaptor, an Ndfip, via the WW domains of NEDD4-like E3 ubiquitin ligases leads to their disinhibition. Here, we show that the canonical Ndfip, NDFIP2, requires multiple PY motifs for interaction with and activation of WWP2. In contrast, the single PY-motif containing Ndfips TMEM127 and SUSD6 functions as a co-disinhibitory pair. TMEM127 and the Salmonella protein SteD also function as a co-disinhibitory pair. However, SteD requires a different region of WWP2, the C2 domain, for interaction with WWP2, and this interaction results in disinhibition of WWP2. These findings demonstrate a range of ways that Ndfips can disinhibit WWP2. To our knowledge, these are the first examples of two Ndfips functioning as co-disinhibitory pairs, and of a bacterial effector that disinhibits an E3 ubiquitin ligase. - Source: PubMed
Publication date: 2025/10/22
Blundell Samkeliso VLiu MeiTocci RominaMajstorovic AndreaTsang SolèneHolden David W