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ROGDI encodes a protein of unknown function. 再加上，我们可以发Rogdi Homolog (Drosophila) 蛋白 (7) 和 和数多这个蛋白质的别的产品。
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Human Polyclonal ROGDI Primary Antibody for ICC, IF - ABIN4350927
Stadler, Rexhepaj, Singan, Murphy, Pepperkok, Uhlén, Simpson, Lundberg: Immunofluorescence and fluorescent-protein tagging show high correlation for protein localization in mammalian cells. in Nature methods 2013
Study provides structural insights into how certain mutations in Rogdi affect its structure and cause Kohlschutter-Tonz syndrome, which has important implications for the development of pharmaceutical agents against this debilitating neurological disease.
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.
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.
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.
This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants.
leucine zipper domain protein
, leucine-zipper-containing LZF
, protein rogdi homolog