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Mouse Anti-DYM Recombinant Antibody (CBYCD-456) (CBMAB-D1986-YC)

Provided herein is a Mouse monoclonal antibody, which binds to Dymeclin (DYM). The antibody can be used for immunoassay techniques, such as WB, ICC, IHC-P, IHC-Fr, ELISA.
See all DYM antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYCD-456
Antibody Isotype
IgG
Application
WB, ICC, IHC-P, IHC-Fr, ELISA

Basic Information

Immunogen
Dymeclin
Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
dymeclin
Introduction
DYM is a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia.
Entrez Gene ID
54808
UniProt ID
Q7RTS9
Alternative Names
Dymeclin; Dyggve-Melchior-Clausen Syndrome Protein; DMC; SMC;
Research Area
Necessary for correct organization of Golgi apparatus. Involved in bone development.
Biological Process
Bone development Source: UniProtKB
Golgi organization Source: UniProtKB
Cellular Location
Golgi apparatus; Cytoplasm; Membrane. Sequence analysis programs clearly predict 1 transmembrane region. However, PubMed:18996921 shows that it is not a stably anchored transmembrane protein but it weakly associates with the Golgi apparatus and shuttles between the Golgi and the cytosol.
Involvement in disease
Dyggve-Melchior-Clausen syndrome (DMC):
A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests.
Smith-McCort dysplasia 1 (SMC1):
A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is 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.
PTM
Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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