DYM rabbit pAb
- Catalog No.:YT7257
- Applications:WB
- Reactivity:Human;Mouse;Rat
- Target:
- DYM
- Gene Name:
- DYM
- Protein Name:
- DYM
- Human Gene Id:
- 54808
- Human Swiss Prot No:
- Q7RTS9
- Mouse Gene Id:
- 69190
- Mouse Swiss Prot No:
- Q8CHY3
- Rat Swiss Prot No:
- B4F766
- Immunogen:
- Synthesized peptide derived from human DYM AA range: 30-80
- Specificity:
- This antibody detects endogenous levels of DYM at Human/Mouse/Rat
- Formulation:
- Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
- Source:
- Polyclonal, Rabbit,IgG
- Dilution:
- WB 1:500-2000
- Purification:
- The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
- Concentration:
- 1 mg/ml
- Storage Stability:
- -15°C to -25°C/1 year(Do not lower than -25°C)
- Molecular Weight(Da):
- 74kD
- Background:
- 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],
- Function:
- disease:Defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]. 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.,disease:Defects in DYM are the cause of Smith-McCort dysplasia (SMC) [MIM:607326]. 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.,PTM:Myristoylated in vitro; myristoylation is not essential for pr
- Subcellular Location:
- Cytoplasm. Golgi apparatus. Membrane ; Lipid-anchor . 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.
- Expression:
- Expressed in most embryo-fetal and adult tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder and thyroid gland.
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- Antibody-FAQs
- Products Images
- Western blot analysis of lysates from KB cells, primary antibody was diluted at 1:1000, 4°over night