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Literature summary for 3.6.5.5 extracted from

  • Boehm, J.; Biancalana, V.; Dechene, E.T.; Bitoun, M.; Pierson, C.R.; Schaefer, E.; Karasoy, H.; Dempsey, M.A.; Klein, F.; Dondaine, N.; Kretz, C.; Haumesser, N.; Poirson, C.; Toussaint, A.; Greenleaf, R.S.; Barger, M.A.; Mahoney, L.J.; Kang, P.B.; Zanoteli, E.; Vissing, J.; Witting, N.; Echaniz-Laguna, A.
    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy (2012), Hum. Mutat., 33, 949-959.
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
dynamin 2 genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information identification of mutations of the enzyme involved in centronuclear myopathy and Charcot-Marie-Tooth peripheral neuropathy, genotype-phenotype correlations, overview Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P50570
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-

Source Tissue

Source Tissue Comment Organism Textmining
skeletal muscle
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 Homo sapiens
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Subunits

Subunits Comment Organism
More dynamin 2 is a multidomain protein composed of an N-terminal GTPase domain, a middle domain (MID), a pleckstrin homology (PH) domain, a GTPase effector domain (GED), and a C-terminal proline–arginine-rich domain (PRD) Homo sapiens

Synonyms

Synonyms Comment Organism
DNM2
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 Homo sapiens
dynamin 2
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 Homo sapiens
large GTPase
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 Homo sapiens

General Information

General Information Comment Organism
malfunction centronuclear myopathy is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant centronuclear myopathy is due to mutations in the large GTPase dynamin 2. In addition to centronuclear myopathy, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations, possible clinical overlap, phenotypes, overview Homo sapiens
physiological function the large GTPase dynamin 2 is a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. The enzyme acts as a mechanochemical enzyme involved in membrane fission, and is therefore a key player for endosome formation and membrane trafficking from the plasma membrane and the trans-Golgi network Homo sapiens