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ELK Biotechnology

SKU:ES16842

DYM rabbit pAb

DYM rabbit pAb

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Size
Applications: WB
Reactivity: Human; Mouse;Rat
Source: Rabbit
Dilution: WB 1:500-2000
Immunogen: Synthesized peptide derived from human DYM AA range: 30-80
Storage_stability: -20°C/1 year
Clonality: Polyclonal
Isotype: IgG
Concentration: 1 mg/ml
Human_gene_id: 54808
Human_swiss_prot_no: Q7RTS9
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.
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],
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