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DYM encodes a protein which is necessary for normal skeletal development and brain function.
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Dymeclin is crucial for proper myelination and anterograde neuronal trafficking, two processes that are highly active during postnatal brain maturation.
The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X).
A novel homozygous splice-site mutation (IVS15+3G>T)of dymeclin gene in the 18q12-12.1 chromosomal region was detected in Dyggve-Melchior-Clausen syndrome.
Data reveal Dymeclin driven processes central to bone development pathways, including Golgi organization, Golgi-coupled protein secretion, and collagen deposition in the extracellular matrix.
dymeclin gene has a role in Golgi function and vesicular transport in the presynapse in schizophrenia in the Japanese population
Gene mutations in a novel, evolutionarily conserved gene are identified in both rare autosomal recessive osteochondrodysplasias (DMC and SMC).
DYM mutations associated with Dyggve-Melchior-Clausen dysplasia result in mis (show AMH Proteins)-localization of Dymeclin.
This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation.
, dyggve-Melchior-Clausen syndrome protein