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Dymeclin is 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.
Permeabilization assays revealed that dymeclin is not a transmembrane but a peripheral protein of the Golgi apparatus as it can be completely released from the Golgi after permeabilization of the plasma membrane. Time-lapse microscopy of living cells showed that dymeclin shuttled between the cytosol and the Golgi apparatus in a highly dynamic manner and recognized specifically a subset of mature Golgi membranes.
Organism species: Homo sapiens (Human)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | RPC438Hu01 | Recombinant Dymeclin (DYM) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | PAC438Hu01 | Polyclonal Antibody to Dymeclin (DYM) | WB; IHC; ICC; IP. |
| MAC438Hu22 | Monoclonal Antibody to Dymeclin (DYM) | WB; IHC; ICC; IP. | |
| PAC438Hu02 | Polyclonal Antibody to Dymeclin (DYM) | WB; IHC; ICC; IP. | |
| LAC438Hu71 | Biotin-Linked Polyclonal Antibody to Dymeclin (DYM) | WB; IHC; ICC. | |
| Assay Kits | n/a | CLIA Kit for Dymeclin (DYM) | CLIA Kit Customized Service Offer |
| n/a | ELISA Kit for Dymeclin (DYM) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | n/a | Recombinant Dymeclin (DYM) | Recombinant Protein Customized Service Offer |
| Antibodies | n/a | Monoclonal Antibody to Dymeclin (DYM) | Monoclonal Antibody Customized Service Offer |
| n/a | Polyclonal Antibody to Dymeclin (DYM) | Polyclonal Antibody Customized Service Offer | |
| Assay Kits | n/a | CLIA Kit for Dymeclin (DYM) | CLIA Kit Customized Service Offer |
| n/a | ELISA Kit for Dymeclin (DYM) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
| CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
| Proteins | n/a | Recombinant Dymeclin (DYM) | Recombinant Protein Customized Service Offer |
| Antibodies | n/a | Monoclonal Antibody to Dymeclin (DYM) | Monoclonal Antibody Customized Service Offer |
| n/a | Polyclonal Antibody to Dymeclin (DYM) | Polyclonal Antibody Customized Service Offer | |
| Assay Kits | n/a | CLIA Kit for Dymeclin (DYM) | CLIA Kit Customized Service Offer |
| n/a | ELISA Kit for Dymeclin (DYM) | ELISA Kit Customized Service Offer |
- "Mutations in a novel gene dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome."Hum. Mol. Genet. 12:357-364(2003) [PubMed] [Europe PMC] [Abstract]
- "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
- "The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus."Hum. Mol. Genet. 18:440-453(2009) [PubMed] [Europe PMC] [Abstract]
- "Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and Golgi organization and is associated with protein secretion pathways critical in bone development."Hum. Mutat. 32:231-239(2011) [PubMed] [Europe PMC] [Abstract]
- "Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene."Am. J. Hum. Genet. 72:419-428(2003) [PubMed] [Europe PMC] [Abstract]
- "Portuguese case of Smith-McCort syndrome caused by a new mutation in the dymeclin (FLJ20071) gene."Clin. Dysmorphol. 18:41-44(2009) [PubMed] [Europe PMC] [Abstract]