功能： catalytic activity:GTP + H(2)O = GDP + phosphate.,disease:Defects in DNM2 are a cause of centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]; also known as autosomal dominant myotubular myopathy. Centronuclear myopathies (CNMs) are congenital muscle disorders characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. CNMs comprise a wide spectrum of phenotypes, ranging from severe neonatal to mild late-onset familial forms. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.,disease:Defects in DNM2 are the cause of Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]. Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIB is a form of Charcot-Marie-Tooth disease characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.,function:Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis.,similarity:Belongs to the dynamin family.,similarity:Contains 1 GED domain.,similarity:Contains 1 PH domain.,subcellular location:Microtubule-associated. Also found in the postsynaptic density of neuronal cells.,subunit:Interacts with MYOF (By similarity). Interacts with SHANK1, SHANK2, SH3BP4 and NOSTRIN.,tissue specificity:Ubiquitously expressed.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm. Cytoplasm, cytoskeleton. Cell junction . Membrane, clathrin-coated pit . Cell junction, synapse, postsynaptic density. Cell junction, synapse. Midbody. Cell projection, phagocytic cup . Cytoplasmic vesicle, phagosome membrane ; Peripheral membrane protein . Colocalizes with CTTN at the basis of filopodia in hippocampus neuron growth zones (By similarity). Microtubule-associated. Also found in the postsynaptic density of neuronal cells. Co-localizes with PIK3C3 and RAB5A to the nascent phagosome (By similarity). .
功能： catalytic activity:GTP + H(2)O = GDP + phosphate.,disease:Defects in DNM2 are a cause of centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]; also known as autosomal dominant myotubular myopathy. Centronuclear myopathies (CNMs) are congenital muscle disorders characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. CNMs comprise a wide spectrum of phenotypes, ranging from severe neonatal to mild late-onset familial forms. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.,disease:Defects in DNM2 are the cause of Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]. Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIB is a form of Charcot-Marie-Tooth disease characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.,function:Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes, in particular endocytosis.,similarity:Belongs to the dynamin family.,similarity:Contains 1 GED domain.,similarity:Contains 1 PH domain.,subcellular location:Microtubule-associated. Also found in the postsynaptic density of neuronal cells.,subunit:Interacts with MYOF (By similarity). Interacts with SHANK1, SHANK2, SH3BP4 and NOSTRIN.,tissue specificity:Ubiquitously expressed.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm. Cytoplasm, cytoskeleton. Cell junction . Membrane, clathrin-coated pit . Cell junction, synapse, postsynaptic density. Cell junction, synapse. Midbody. Cell projection, phagocytic cup . Cytoplasmic vesicle, phagosome membrane ; Peripheral membrane protein . Colocalizes with CTTN at the basis of filopodia in hippocampus neuron growth zones (By similarity). Microtubule-associated. Also found in the postsynaptic density of neuronal cells. Co-localizes with PIK3C3 and RAB5A to the nascent phagosome (By similarity). .
在线咨询
湘公网安备