Human rogdi homolog (Drosophila) ELISA Kit | ROGDI elisa kit
Human Protein rogdi homolog, ROGDI ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Mar 2012]
Uniprot Description
ROGDI: May act as a positive regulator of cell proliferation. Defects in ROGDI are the cause of Kohlschuetter-Toenz syndrome (KTZS). An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life. Belongs to the rogdi family.
Protein type: Cell cycle regulation
Chromosomal Location of Human Ortholog: 16p13.3
Cellular Component: nuclear envelope; intracellular
Biological Process: positive regulation of cell proliferation; hemopoiesis
Disease: Kohlschutter-tonz Syndrome
Research Articles on ROGDI
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Product Notes
The Human ROGDI rogdi (Catalog #AAA9334019) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9334019 ELISA Kit recognizes Human ROGDI. It is sometimes possible for the material contained within the vial of "rogdi homolog (Drosophila), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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