2024年12月25日 · MTM1 (Myotubularin 1) is a Protein Coding gene. Diseases associated with MTM1 include Myopathy, Centronuclear, X-Linked and Centronuclear Myopathy. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatidylinositol binding.

2002年2月25日 · X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. Approximately 80% of affected males present with severe (classic) X-MTM characterized by polyhydramnios, decreased fetal movement, and neonatal weakness, hypotonia, and respiratory failure.

MTM1是X-MTM的致病基因，位于xq28，长度约100kb，包括15个外显子（范围在44-207bp）,编码肌管蛋白，MTM1基因突变可能会破坏肌管蛋白在肌细胞发育和维持中的作用，导致肌无力和其他x连锁肌管性肌病的体征和症状。

The MTM1 gene provides instructions for producing an enzyme called myotubularin. Myotubularin is thought to be involved in the development and maintenance of muscle cells.

2024年12月27日 · Title: Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. our data highlight a safeguarding function of the MTM1-UBQLN2 complex that ensures cytoskeletal integrity to avoid proteotoxic aggregate formation

该基因编码一种双特异性磷酸酶，可同时作用于磷酸酪氨酸和磷酸丝氨酸。 它是肌肉细胞分化所必需的，该基因的突变已被确定为导致 X 连锁肌管肌病的原因。 [RefSeq 提供，2008 年 7 月] This gene encodes a dual-specificity Phosphatase that acts on …

2016年12月14日 · HGNC Approved Gene Symbol: MTM1. The MTM1 gene encodes a protein that belongs to a family of putative tyrosine phosphatases. Myotubularin is required for muscle cell differentiation. Myotubularin is also a potent phosphatidylinositol 3-phosphate (PI3P) phosphatase (Blondeau et al., 2000; Taylor et al., 2000).

2022年12月26日 · 该研究团队在研究一种罕见的遗传性肌肉疾病---X连锁中央核肌病（X-linked centronuclear myopathy, XLCNM）---时，对人类细胞的这一基本机制有了新的认识。 这种疾病通常影响男孩，涉及X染色体上的一个缺陷基因，从而导致骨骼肌发育障碍。 这种肌肉无力是如此严重，以至于在许多情况下，受影响的儿童需要呼吸机支持，并需要坐轮椅。 受影响的人不能活过10至12岁；在严重的情况下，他们出生后不久就会死亡。 这种疾病的遗传缺陷影响到脂质磷 …

X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy, usually characterized by severe hypotonia and respiratory insufficiency at birth, in affected, male infants. The disease is causally associated with mutations in the MTM1 gene, coding for phosphatase myotubularin.

2012年9月12日 · Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear myopathy (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene,...