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Mouse Anti-DYM Recombinant Antibody (1C2) (V2LY-0425-LY1133)


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Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
1C2
Antibody Isotype
IgG1, κ
Application
ELISA

Basic Information

Immunogen
DYM (aa343-431) partial recombinant protein.
Host Species
Mouse
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG1, κ
Clonality
Monoclonal Antibody
Application Notes
ApplicationNote
WB1 µg/ml
IF(ICC)2-4 µg/ml
IP1:10-1:500
IHC-P1:10-1:500
FC1-2 µg/ml

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

Format
Liquid
Buffer
PBS
Preservative
None
Concentration
Batch dependent
Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
dymeclin
Entrez Gene ID
54808
UniProt ID
Q7RTS9
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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