Catalog No.
YHE98101
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Val1469-Ser1690
Predicted molecular weight
26.91 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
P53420
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
Collagen alpha-4(IV) chain, COL4A4
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype., PMID:40485705
The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report., PMID:40406358
A case report of atypical autosomal dominant polycystic kidney disease presenting as glomerulocystic kidney superimposed with thin basement membrane nephropathy., PMID:40375172
Proteomic Analysis of Transbronchial Biopsies to Discover Novel Biomarkers for Early Identification of Chronic Lung Allograft Dysfunction., PMID:40371053
[New Genetic Variants Involved in the Pathogenesis of Autosomal Dominant Alport Syndrome: A Familial Case Report]., PMID:40332975
Small Extracellular Vesicles From Hypoxia-Neuron Maintain Blood-Brain Barrier Integrity., PMID:40171669
Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil., PMID:40169949
C-Terminal Hsp90 Inhibitors Overcome MEK and BRAF Inhibitor Resistance in Melanoma., PMID:40135438
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese., PMID:40044766
Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience., PMID:40004525
SPP1hi macrophages, NKG7 T cells, CCL5hi fibroblasts, and IgM plasma cells are dominant features of necrobiosis., PMID:39989459
Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review., PMID:39924725
Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease., PMID:39913008
A 15-year experience highlighting the spectrum of Alport kidney disease in the pediatric population and novel genetic variants in COL4A3-5., PMID:39907758
Genotype-Based Molecular Mechanisms in Alport Syndrome., PMID:39899372
[Clinical and genetic features of persistent asymptomatic microscopic hematuria in children]., PMID:39844494
Whole-genome resequencing reveals collagen-related genes in Kele pigs., PMID:39739914
Synergistic toxicity of compound heterozygous mutations in the COL4A3 gene causes end-stage renal disease in A large family of Alport syndrome., PMID:39615805
Toripalimab Plus Chemotherapy as a First-Line Therapy for Extensive-Stage Small Cell Lung Cancer: The Phase 3 EXTENTORCH Randomized Clinical Trial., PMID:39541202
Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria., PMID:39540369
Alport syndrome: Expanding diagnosis and treatment., PMID:39521677
Changes of collagen content in lung tissues of plateau yak and its mechanism of adaptation to hypoxia., PMID:39372716
Detection of Alport gene variants in children and young people with persistent haematuria., PMID:39349776
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants., PMID:39333430
First patient diagnosed with lipoprotein glomerulopathy and Alport syndrome., PMID:39328028
Spectrum of Alport syndrome in an Indian cohort., PMID:39278986
Denovo glomerulonephritis associated with IgA anti-GBM alloantibodies after kidney transplantation in Alport syndrome: A case report with diagnostic implications., PMID:39237079
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children., PMID:39202375
Genetic study of Alport syndrome in Tunisia., PMID:39138691
Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome., PMID:39071776
[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts]., PMID:39019822
Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome., PMID:38978054
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study., PMID:38972501
Glomerular Endothelial Cell Receptor Adhesion G-Protein-Coupled Receptor F5 (ADGRF5) and the Integrity of the Glomerular Filtration Barrier., PMID:38844335
A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure., PMID:38837003
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease., PMID:38790225
Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience., PMID:38790222
X-linked Alport syndrome presenting in mother and son with the same unique histopathological features., PMID:38668984
Genetic reprogramming with stem cells regenerates glomerular epithelial podocytes in Alport syndrome., PMID:38561223
Alport syndrome and Alport kidney diseases - elucidating the disease spectrum., PMID:38477333
Transcriptomic analysis delineates preterm prelabor rupture of membranes from preterm labor in preterm fetal membranes., PMID:38443884
Genetic diagnosis of Alport syndrome in 16 Chinese families., PMID:38433557
Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants., PMID:38317457
Neutrophil-mediated type IV collagen degradation is elevated in patients with mild endoscopic ulcerative colitis reflecting early mucosal destruction., PMID:38238446
The multifaceted roles of COL4A4 in lung adenocarcinoma: An integrated bioinformatics and experimental study., PMID:38217972
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?, PMID:38214412
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females., PMID:38197426
Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome., PMID:38178635
Flow induces common and specific transcriptional changes in renal tubular epithelial cells involving the PI3K pathway., PMID:38050412
Collagen IV of basement membranes: II. Emergence of collagen IVα345 enabled the assembly of a compact GBM as an ultrafilter in mammalian kidneys., PMID:37977222