Dynamin 2 peptide (ab4985)

関連情報

• 別名
  • CMT2M
  • CMTDI1
  • CMTDIB

  • DI CMTB
  • Dnm2
  • DYN II
  • DYN2
  • DYN2_HUMAN
  • Dynamin II
  • Dynamin-2
  • Dynamin2
  • DynaminII
  • DYNII

  see all
• 機能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.
• 組織特異性Ubiquitously expressed.
• 関連疾患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.
  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.
• 配列類似性Belongs to the dynamin family.
  Contains 1 GED domain.
  Contains 1 PH domain.
• 細胞内局在Cytoplasm. Cytoplasm > cytoskeleton. Cell junction > synapse > postsynaptic cell membrane > postsynaptic density. Cell junction > synapse. Microtubule-associated. Also found in the postsynaptic density of neuronal cells.

• Target information above from: UniProt accession P50570 The UniProt Consortium
  The Universal Protein Resource (UniProt) in 2010
  Nucleic Acids Res. 38:D142-D148 (2010) .

  Information by UniProt