Dymeclin (DYM), ELISA Kit

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 18; NC_000018.9 (46570172..46987079, complement). Location: 18q21.1

Store all reagents at 2-8 degree C

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.

Small volumes of DYM elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9312239 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Dymeclin (DYM) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing DYM. The ELISA analytical biochemical technique of the MBS9312239 kit is based on DYM antibody-DYM antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect DYM antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, DYM. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

75,935 Da

dymeclin

dymeclin; dyggve-Melchior-Clausen syndrome protein

Dymeclin

DYM_HUMAN

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. [provided by RefSeq, Jul 2008]

DYM: Necessary for correct organization of Golgi apparatus. Involved in bone development. Defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome (DMC). DMC is a rare autosomal recessive disorder characterized by short trunk dwarfism, microcephaly and psychomotor retardation. Electron microscopic study of cutaneous cells of affected patients shows dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles. DMC is progressive. Defects in DYM are the cause of Smith-McCort dysplasia (SMC). SMC is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen syndrome. Belongs to the dymeclin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 18q21.1

Cellular Component: Golgi apparatus; cytoplasm

Molecular Function: protein binding; enzyme binding

Biological Process: Golgi organization and biogenesis

Disease: Dyggve-melchior-clausen Disease; Smith-mccort Dysplasia 1

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