Catalog No.
YHA43501
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met1-Asp346
Predicted molecular weight
41.41 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
O15160
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
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
DNA-directed RNA polymerases I and III subunit RPAC1, DNA-directed RNA polymerase I subunit C, RNA polymerases I and III subunit AC1, AC40, DNA-directed RNA polymerases I and III 40 kDa polypeptide, RPA40, RPA39, RPC40, POLR1C, POLR1E
POLR1D, a shared subunit of RNA polymerase I and III, modulates mTORC1 activity., PMID:40222657
POLR3-Related Leukodystrophy: A Case Series from the Indian Scenario., PMID:40176224
Evolutionary and Structural Insights into the RNA Polymerase I A34 Protein Family: A Focus on Intrinsic Disorder and Phase Separation., PMID:39858608
Upstream regulation of microRNA-9 through a complex cellular machinery during neurogenesis., PMID:39547498
Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing., PMID:39518953
Novel targets for the treatment and prevention of Alzheimer's disease in the European population, inspiration from amyloid beta and tau protein., PMID:39492919
p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model., PMID:38556235
A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome., PMID:38500116
Case report: Neuropsychological assessment in a patient with 4H leukodystrophy., PMID:37974060
Clinical and molecular study of Egyptian patients with Treacher Collins syndrome., PMID:37646764
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C., PMID:37197783
The First Case of 4H Syndrome with Type 1 Diabetes Mellitus., PMID:36974356
Proteomic signatures of infiltrative gastric cancer by proteomic and bioinformatic analysis., PMID:36438703
A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity., PMID:36203321
Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister., PMID:36042647
Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development., PMID:35881792
A clinically-relevant residue of POLR1D is required for Drosophila development., PMID:35656583
The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations., PMID:35434302
Treacher Collins Syndrome: Genetics, Clinical Features and Management., PMID:34573374
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia., PMID:33804237
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?, PMID:33659930
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing., PMID:33597727
A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome., PMID:33341718
Structure of human RNA polymerase III., PMID:33335104
Hypomyelinating leukodystrophies in adults: Clinical and genetic features., PMID:33190326
POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy., PMID:33134519
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C., PMID:33005949
Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome., PMID:32537850
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype., PMID:32319736
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4., PMID:31649276
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia., PMID:31368241
TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect., PMID:31307516
[Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome]., PMID:31218872
Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome., PMID:31107123
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia., PMID:31089205
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature., PMID:30957429
Effects of HLD-associated POLR1C mutant proteins on cellular localization and differentiation., PMID:30505682
Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation., PMID:29567474
Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations., PMID:29230583
4H Leukodystrophy: Lessons from 3T Imaging., PMID:29179231
Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish., PMID:29128566
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity., PMID:28973381
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder., PMID:28589944
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A., PMID:28051070
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome., PMID:27448281
[The research progress of Treacher Collins syndrome]., PMID:27373049
Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model., PMID:26972049
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III., PMID:26151409
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients., PMID:25790162
For research use only. Not for human or drug use.
