Catalog No.
YHK52701
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met1-Phe287
Predicted molecular weight
34.42 kDa
Nature
Recombinant
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q9GZN7
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Protein rogdi homolog, ROGDI
Note
For research use only.
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome., PMID:22424600
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome., PMID:22482807
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome., PMID:22522085
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity., PMID:23086778
Genotype-based databases for variants causing rare diseases., PMID:25111118
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome., PMID:25565929
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome., PMID:27600704
Downregulation of a novel human gene, ROGDI, increases radiosensitivity in cervical cancer cells., PMID:27636029
FcRav2, a gene with a ROGDI domain involved in Fusarium head blight and crown rot on durum wheat caused by Fusarium culmorum., PMID:28322011
The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome., PMID:28638151
Rogdi Defines GABAergic Control of a Wake-promoting Dopaminergic Pathway to Sustain Sleep in Drosophila., PMID:28900300
The Kohlschütter-Tönz syndrome associated gene Rogdi encodes a novel presynaptic protein., PMID:29150638
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome., PMID:29153277
An Optical Assay for Synaptic Vesicle Recycling in Cultured Neurons Overexpressing Presynaptic Proteins., PMID:30010661
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity., PMID:33866847
Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants., PMID:34939736
Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation., PMID:37646740
Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review., PMID:37974187
The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome., PMID:38172607
Early Chronic Fluoxetine Treatment of Ts65Dn Mice Rescues Synaptic Vesicular Deficits and Prevents Aberrant Proteomic Alterations., PMID:38674386
Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome., PMID:39445602
Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome., PMID:39993789
The ROGDI protein mutated in Kohlschutter-Tonz syndrome is a novel subunit of the Rabconnectin-3 complex implicated in V-ATPase assembly., PMID:40049412
Identification of ulcerative colitis diagnostic markers from differentially expressed genes shared with Hirschsprung disease., PMID:40175429
For research use only. Not for human or drug use.
