Catalog No.
YHG75501
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Ala20-Leu285
Predicted molecular weight
32.19 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q14204
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
DNECL, DNCH1, DHC1, DNCL, Cytoplasmic dynein 1 heavy chain 1, DYNC1H1, DYHC, Cytoplasmic dynein heavy chain 1, KIAA0325, Dynein heavy chain, cytosolic
Analysis of the DYNC1H1 Gene Polymorphic Variants' Association with ASD Occurrence and Clinical Phenotype of Affected Children., PMID:40428333
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy., PMID:40290421
Comprehensive Proteomics and Machine Learning Analysis to Distinguish Follicular Adenoma and Follicular Thyroid Carcinoma from Indeterminate Thyroid Nodules., PMID:40205804
[A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders]., PMID:40047846
Effect of Dync1h1 on Phototransduction Protein Transport and the Development and Maintenance of Photoreceptor Cells in Zebrafish., PMID:39946138
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice., PMID:39707869
Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations., PMID:39631264
Loss of Dnah5 Downregulates Dync1h1 Expression, Causing Cortical Development Disorders and Congenital Hydrocephalus., PMID:39594631
CNKSR2 interactome analysis indicates its association with the centrosome/microtubule system., PMID:39359098
Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients., PMID:39214127
Candidate proteins interacting with cytoskeleton in cells from the basal airway epithelium in vitro., PMID:39139811
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield., PMID:39123069
Patient-specific mutation of Dync1h1 in mice causes brain and behavioral deficits., PMID:39025270
Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes., PMID:38965607
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants., PMID:38953796
The expanding clinical and genetic spectrum of DYNC1H1-related disorders., PMID:38848546
Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations., PMID:38806879
PRMT5-mediated arginine methylation of FXR1 is essential for RNA binding in cancer cells., PMID:38709899
An exosome mRNA-related gene risk model to evaluate the tumor microenvironment and predict prognosis in hepatocellular carcinoma., PMID:38627727
Aggrephagy-related gene signature correlates with survival and tumor-associated macrophages in glioma: Insights from single-cell and bulk RNA sequencing., PMID:38454689
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations., PMID:38194050
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India., PMID:38114583
miR-134-3p driven by anisomycin impairs ovarian cancer stem cell activity through inhibiting GPR137 expression., PMID:38021163
Screening and Identifying Reference Genes for Erythrocyte Production from Cord Blood CD34+ Cells Exposed to Hypoxia., PMID:38011643
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders., PMID:37903666
Aberrant dynein function promotes TDP-43 aggregation and upregulation of p62 in male mice harboring transgenic human TDP-43., PMID:37498094
Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs., PMID:37395972
Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review., PMID:37181555
Interactome-Based Machine Learning Predicts Potential Therapeutics for COVID-19., PMID:37163139
Genome-wide identification of alternative splicing and splicing regulated in immune infiltration in osteosarcoma patients., PMID:37139238
[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses]., PMID:37011981
A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture., PMID:36933672
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation., PMID:36882741
[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1]., PMID:36720598
Arf-like Protein 2 (ARL2) Controls Microtubule Neogenesis during Early Postnatal Photoreceptor Development., PMID:36611941
Non-synonymous, synonymous, and non-coding nucleotide variants contribute to recurrently altered biological processes during retinoblastoma progression., PMID:36550020
Ocular manifestations in a 2 year-old patient with a DYNC1H1 mutation., PMID:36537327
Generation of FOUR iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from Spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype., PMID:36332468
A conditional null allele of Dync1h1 enables targeted analyses of dynein roles in neuronal length sensing., PMID:36218033
DYNC1H1-related epilepsy: Genotype-phenotype correlation., PMID:36175372
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia., PMID:36139378
Identification of a 6-RBP gene signature for a comprehensive analysis of glioma and ischemic stroke: Cognitive impairment and aging-related hypoxic stress., PMID:36118697
NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways., PMID:36104662
Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations., PMID:35899263
DYNC1H1 de novo mutation, spinal muscular atrophy and attention problems., PMID:35606327
A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis., PMID:35601740
The crosstalk signals of Sodium Tanshinone ⅡA Sulfonate in rats with cerebral ischemic stroke: Insights from proteomics., PMID:35561426
Rapid assessment of the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in Caenorhabditis elegans., PMID:35363276
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations., PMID:35099838
For research use only. Not for human or drug use.
