2024年12月25日 · MYOF (Myoferlin) is a Protein Coding gene. Diseases associated with MYOF include Angioedema, Hereditary, 7 and Hereditary Angioedema With Normal C1inh Not Related To F12 Or Plg Variant. Among its related pathways are Nuclear receptors meta-pathway and Signaling events mediated by VEGFR1 and VEGFR2.

Myoferlin is a protein that in humans is encoded by the MYOF gene. [5] [6] [7] [8] Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin.

Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes.

Myoferlin（MYOF）是Ferlin蛋白家族的成员之一，能够广泛参与细胞迁移和侵袭的相关过程，包括膜泡运输、膜受体再循环和分泌蛋白外排等功能[3]。 肿瘤中MYOF过表达介导的膜泡运输导致细胞极性丧失、细胞生长信号失控、细胞粘附和细胞间的紧密连接减弱等，对于 ...

2025年2月9日 · Myoferlin is a key regulator of EGFR activity in breast cancer. Turtoi A, et al. Cancer Res, 2013 Sep 1. PMID 23864327. Myoferlin depletion elevates focal adhesion kinase and paxillin phosphorylation and enhances cell-matrix adhesion in breast cancer cells. Blackstone BN, et al. Am J Physiol Cell Physiol, 2015 Apr 15. PMID 25631868.

2025年2月9日 · MYOF regulates cell adhesions and cell-substrate adhesion strength and may account for the high degree of motility in invasive breast cancer cells. These data provide the first evidence of myoferlin expression in solid human and mouse tumors.

2016年11月17日 · 本研究证实了myoferlin是外泌体生物学中新的一个因子，并且提供了靶向这种癌基因的治疗策略。 表：各种肿瘤内myoferlin的高表达. 图：myoferlin的缺失，造成外泌体内各种蛋白水平的变化. 参考文献：Blomme A, Fahmy K, Peulen O, Costanza B, Fontaine M, Struman I, Baiwir D, de Pauw E, Thiry M, Bellahcène A, Castronovo V, Turtoi A. Myoferlin is a novel exosomal protein and functional regulator of cancer-derived exosomes.

2025年1月4日 · Clinical resource with information about MYOF, Angioedema, hereditary, 7, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2019年11月19日 · Myoferlin (MYOF), initially identified in muscle cells, is a member of the Ferlin family involved in membrane fusion, membrane repair, and membrane trafficking. Dysfunction of this protein is associated with muscular dysfunction. Recently, a growing body of studies have identified MYOF as an oncogen …

肌营养不良蛋白，一种与质膜相关的蛋白质，可引起肌肉无力，影响近端和远端肌肉。 这个基因编码的蛋白质是一种II型膜蛋白，在结构上与肌营养不良蛋白相似。 它是ferlin家族的一员，并与质膜和核膜结合。 该蛋白质含有C2结构域，在钙介导的膜融合事件中发挥作用，提示它可能参与膜的再生和修复。 已发现该基因有两个转录变异体，编码不同的异构体。 还检测到了其他可能的变异体，但其全长性质尚未确定。 [RefSeq，2008年12月提供] 该模块正在开发中，请耐心等待我 …