TMEM127

Last update 08 May 2025

Basic Info

Synonyms

FLJ20507, FLJ22257, TMEM127

+ [1]

Introduction

Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor.

100 Clinical Results associated with TMEM127

100 Translational Medicine associated with TMEM127

0 Patents (Medical) associated with TMEM127

146

Literatures (Medical) associated with TMEM127

01 Feb 2025·Endocrinología, Diabetes y Nutrición (English ed.)

TMEM-127 gene mutation: A rare genetic entity associated with metastatic bilateral pheochromocytoma

Review

Author: Gouveia, Pedro ; Ornelas, Mariana ; Resende, Eduarda ; Sá, Maritza ; Ferreira, Margarida

A 30-year pregnant woman was unexpectedly diagnosed with pheochromocytoma during obstetric follow-up. The patient - initially treated with optimal medical therapy - underwent elective C-section followed by right adrenalectomy. In the postoperative period, complete tumor resection was confirmed by negative biochemical tests. Ten years later, the patient developed new symptoms suggestive of catecholaminergic hypersecretion and biochemical tests documented increased urinary fractionated metanephrines. In the postoperative biochemical testing and imaging, persistent disease was documented. During follow-up, repeated imaging modalities evidenced the presence of hepatic and peritoneal metastasis. Genetic testing documented a germline pathogenic variant (c.410-2A>C) in the TMEM-127 gene, a rare pheochromocytoma etiology that typically presents as unilateral adrenal lesion with rare metastatic behavior. The authors underline less frequent findings described in the literature - bilaterality and metastatic behavior - and emphasize the absence of aggressive prognostic markers at initial clinical presentation.

01 Dec 2024·Tissue and Cell

Exosomes from adipose-derived stem cells overexpressing microRNA-671–3p promote fat graft angiogenesis and adipogenic differentiation

Article

Author: Guo, Yuan ; He, Youcheng ; Yu, Xueyuan ; He, Lin ; Hao, Xiaoyan ; Shu, Maoguo

Exosomes from adipose-derived stem cells (ADSCs) have been demonstrated to benefit angiogenesis, wound healing, and fat grafting. Small noncoding RNAs such as microRNA (miRNA) and circular RNA play critical roles in mediating the function of ADSCs-derived exosomes. However, the underlying mechanisms have not been fully elucidated. In this study, we investigated the function and mechanism of human ADSCs-derived exosomes (hADSCs-Exo) in promoting fat graft angiogenesis and adipogenic differentiation. hADSCs-Exo were isolated and identified, and treatment with hADSCs-Exo enhanced fat graft angiogenesis and adipogenic differentiation in a mouse fat graft implantation model. We found that hADSCs-Exo overexpressed miR-671-3p and promoted human umbilical vein endothelial cell (HUVEC) proliferation, migration, and invasion. Bioinformatics analysis and luciferase reporter assay validated that TMEM127 is a direct target of miR-671-3p. Rescue experiments demonstrated that TMEM127 overexpression partially antagonized the function of hADSCs-Exo in vitro, such as suppressing HUVEC cell proliferation, migration, and invasion. Moreover, TMEM127 overexpression abrogated the function of hADSCs-Exo on fat graft angiogenesis and adipogenic differentiation. Taken together, our findings demonstrate that miR-671-3p-overexpressing exosomes from ADSC promote fat graft angiogenesis and adipogenic differentiation, which highlights the potential of targeting the ADSC-Exosomes-miR-671-3p/TMEM127 axis to improve outcome of fat graft and tissue engineering regenerative medicine.

01 Nov 2024·American Journal of Medical Genetics Part A

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals

Article

Author: Saglam, Kubra Adanur ; Demir, Oguzhan ; Turkyilmaz, Ayberk ; Cebi, Alper Han ; Apuhan, Tuna ; Yilmaz, Mustafa

AbstractBig data generated from exome sequencing (ES) and genome sequencing (GS) analyses can be used to detect actionable and high‐penetrance variants that are not directly associated with the primary diagnosis of patients but can guide their clinical follow‐up and treatment. Variants that are classified as pathogenic/likely pathogenic and are clinically significant but not directly associated with the primary diagnosis of patients are defined as secondary findings (SF). The aim of this study was to examine the frequency and variant spectrum of cancer‐related SF in 2020 Turkish ES data and to discuss the importance of the presence of cancer‐related SF in at‐risk family members in terms of genetic counseling and follow‐up. A total of 2020 patients from 2020 different families were evaluated by ES. SF were detected in 28 unrelated cases (1.38%), and variants in BRCA2 (11 patients) and MLH1 (4 patients) genes were observed most frequently. A total of 21 different variants were identified, with 4 of them (c.9919_9932del and c.3653del in the BRCA2 gene, c.2002A>G in the MSH2 gene, c.26_29del in the TMEM127 gene) being novel variations. In three different families, c.1189C>T (p.Gln397*) variation in BRCA2 gene was detected, suggesting that this may be a common variant in the Turkish population. This study represents the largest cohort conducted in the Turkish population, examining the frequency and variant spectrum of cancer‐related SF. With the identification of frequent variations and the detection of novel variations, the findings of this study have contributed to the variant spectrum. Genetic testing conducted in family members is presented as real‐life data, showcasing the implications in terms of counseling, monitoring, and treatment through case examples.

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TMEM127

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