Western blot
All lanes: ROGDI antibody at 1.2µg/ml
Lane 1: Hela whole cell lysate
Lane 2: K562 whole cell lysate
Secondary
Goat polyclonal to rabbit IgG at 1/10000 dilution
Predicted band size: 33 kDa
Observed band size: 33 kDa
Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA867108LA01HU at dilution of 1:100
Immunohistochemistry of paraffin-embedded human pancreatic tissue using CSB-PA867108LA01HU at dilution of 1:100
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
We identify novel compound heterozygous ROGDI mutations in five typical Kohlschutter-Tonz syndrome families. Other families were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease. PMID: 23086778
The finding that ROGDI mutations cause Kohlschutter-Tonz Syndrome indicates that the protein product of this gene plays an important role in neuronal development as well as amelogenesis. PMID: 22424600
Homozygosity mapping localized the gene linked to Kohlschutter-Tonz syndrome to a 586,513 bp region (with a LOD score of 6.4) in chromosomal region 16p13.3. The nonsense mutation was homozygous in all affected individuals. PMID: 22482807