DYM Antibody, FITC conjugated

1. Dymeclin is crucial for proper myelination and anterograde neuronal trafficking, two processes that are highly active during postnatal brain maturation. PMID: 25652408
2. The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X). PMID: 24300288
3. 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. PMID: 20865280
4. Data reveal Dymeclin driven processes central to bone development pathways, including Golgi organization, Golgi-coupled protein secretion, and collagen deposition in the extracellular matrix. PMID: 21280149
5. dymeclin gene has a role in Golgi function and vesicular transport in the presynapse in schizophrenia in the Japanese population PMID: 20555340
6. Gene mutations in a novel, evolutionarily conserved gene are identified in both rare autosomal recessive osteochondrodysplasias (DMC and SMC). PMID: 12491225
7. Mutations cause Dyggve-Melchior-Clausen syndrome. Normal function may be in process of intracellular digestion of proteins. PMID: 12554689
8. DYM mutations associated with Dyggve-Melchior-Clausen dysplasia result in mis-localization of Dymeclin. PMID: 18996921

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HGNC: 21317

OMIM: 223800

KEGG: hsa:54808

STRING: 9606.ENSP00000269445

UniGene: Hs.162996