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.

2018年9月13日 · Proteomic and biochemical studies identify myoferlin (MYOF) as the direct target of WJ460. In parallel, loss of MYOF or pharmacological inhibition of MYOF by WJ460 reduces breast cancer...

A 1-kb segment of the myoF gene was obtained by the PCR and used as a specific probe for Northern analysis and as a vehicle for gene-targeting studies. The myoF gene is expressed as a 3.7-kb message, a size consistent with it encoding a myosin I class unconventional myosin, bringing the total of myosin is present in Dictyostelium to six.

该基因编码的蛋白质是一种 II 型膜蛋白，其结构与 dysferlin 相似。 它是 ferlin 家族的一员，与质膜和核膜相关。 该蛋白包含在钙介导的膜融合事件中发挥作用的 C2 结构域，表明它可能参与膜再生和修复。 已发现该基因的两个转录本变体编码不同的亚型。 已检测到其他可能的变体，但尚未确定其全长性质。 [RefSeq 提供，2008 年 12 月] Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal …

Myoferlin is a 230kDa trans-membrane multi C2-domain protein that belongs to the ferlin family of proteins. It had been first identified in muscle cells, where it contributes to cell/cell fusion and muscle regeneration [15, 16].

2019年6月26日 · Our data indicate that the identified MYOF variant acts as a loss of function allele and, thus, can potentially lead to deleterious functional effects due to decreased RNA and protein levels. However, more than 70 loss of function MYOF variants have been reported in public databases such as ExAC and gnomAD.

2016年10月24日 · Myoferlin is a multiple C2-domain-containing protein that regulates membrane repair, tyrosine kinase receptor function and endocytosis in myoblasts and endothelial cells. Recently it has been...

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.

Members of this family have a carboxy-terminal single pass transmembrane domain and multiple C2 domains, which bind negatively charged Phospholipids in the presence of calcium ions. This gene is expressed at high levels in myoblasts and upregulated in damaged skeletal muscle.

The detected fragments correspond to full size MYOF transcript (234 kDa) and suspected cleavage products (74 and 160 kDa) [30].