Transmembrane protease, serine 6 (also known as matriptase-2) is an enzyme that in humans is encoded by the TMPRSS6 gene. [5] Based on twin studies, mutations in TMPRSS6 gene have a correlation with iron deficiency predisposition. [6] The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the ...

2024年12月25日 · TMPRSS6 (Transmembrane Serine Protease 6) is a Protein Coding gene. Diseases associated with TMPRSS6 include Iron-Refractory Iron Deficiency Anemia and Microcytic Anemia. Among its related pathways are Extracellular matrix organization and Collagen chain trimerization.

At least 40 mutations in the TMPRSS6 gene have been found to cause an inherited form of anemia called iron-refractory iron deficiency anemia. This condition is characterized by a shortage (deficiency) of iron in the bloodstream that is resistant (refractory) to treatment with iron.

2023年1月23日 · TMPRSS6 functions as a negative regulator of the expression of the systemic iron-regulatory hormone hepcidin. Over the last decade and a half, growing understanding of TMPRSS6 biology and mechanism of action has enabled development of new therapeutic approaches for patients with diseases of erythropoiesis and iron homeostasis.

2024年1月13日 · In the present study, we found that Tmprss6 markedly inhibited mouse neuroblastoma N2a (neuro-2a) cell proliferation and tumor growth in nude mice. Tmprss6 inhibits Smad1/5/8 phosphorylation by...

2025年1月4日 · TMPRSS6 mutations are associated with iron-refractory iron deficiency anemia. Article summarized the functional relevance of matriptase-2 in iron metabolism. TMPRSS6 mutation leads to overproduction of hepcidin and, in turn, to …

2023年9月25日 · 9MW3011是迈威生物在美国 San Diego的创新研发中心自主研发的，属性为治疗用生物制品1类的抗TMPRSS6 单克隆抗体 。 该药物的靶点主要表达在肝细胞膜表面，通过 特异性结合 ，9MW3011可上调肝细胞表达 铁调素 (Hepcidin) 的水平，进而抑制铁元素的吸收和释放，减 …

TMPRSS6 functions as a negative regulator of the expression of the systemic iron-regulatory hormone hepcidin. Over the last decade and a half, growing understanding of TMPRSS6 biology and mechanism of action has enabled development of new therapeutic approaches for patients with diseases of erythropoiesis and iron homeostasis.ClinicalTrials.gov ...

铁调素由Hamp基因编码，其表达由BMP、STAT等多条信号通路调控，白细胞介素 (IL)-6、跨膜丝氨酸蛋白酶 (TMPRSS)6等信号分子亦在铁调素的调节中发挥重要作用。 笔者现就铁调素的分子结构、作用，以及目前针对铁调素、Hamp基因及其相关信号通路的调节药物的研究进展进行综述。 引用本文: 陈莹莹, 王丽红, 郝长来. 铁调素及其相关调节药物的研究进展 [J] . 国际输血及血液学杂志, 2019, 42 (1) : 85-89. DOI: 10.3760/cma.j.issn.1673-419X.2019.01.014. 版权归中华医学会所 …

TMPRSS6是一种基因，变异后就会“沉默”，如果缺乏TMPRSS6 基因编码的蛋白质，人体内就会产生过多Hepcidin激素。 正常情况下，这种激素负责控制人体不要过量吸收铁。