Catalog No.
YHD83701
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Gly1461-Thr1685
Predicted molecular weight
27.25 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
P29400
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
COL4A5, Collagen alpha-5(IV) chain
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype., PMID:40485705
Transcriptomic characterization of the synergy between human induced pluripotent stem cells-derived liver- and pancreas-on-chip coculture., PMID:40409528
A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene., PMID:40383823
A case report of atypical autosomal dominant polycystic kidney disease presenting as glomerulocystic kidney superimposed with thin basement membrane nephropathy., PMID:40375172
Transcriptome-Wide Analysis and Experimental Validation from FFPE Tissue Identifies Stage-Specific Gene Expression Profiles Differentiating Adenoma, Carcinoma In-Situ and Adenocarcinoma in Colorectal Cancer Progression., PMID:40362431
[New Genetic Variants Involved in the Pathogenesis of Autosomal Dominant Alport Syndrome: A Familial Case Report]., PMID:40332975
Collagen IV of basement membranes: I. Origin and diversification of COL4 genes enabling metazoan multicellularity, evolution, and adaptation., PMID:40220996
Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil., PMID:40169949
Increased HA/CD44/TGFβ signaling implicates in renal fibrosis of a Col4a5 mutant Alport mice., PMID:40075271
Identification of novel COL4A5 variants and prenatal diagnosis in three large families., PMID:40057613
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
Alport Syndrome May contribute to Grand Multiparity in a Typical Low Income Setting., PMID:39981328
Corneal endothelial neovascularization and glaucoma in X-linked Alport syndrome., PMID:39949076
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
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
The Impact of a Western Diet High in Phosphate on the CKD-MBD in an Alport Syndrome Model., PMID:39896481
[Clinical and genetic features of persistent asymptomatic microscopic hematuria in children]., PMID:39844494
VAMP8 as a biomarker and potential therapeutic target for endothelial cell dysfunction in atherosclerosis., PMID:39800194
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN., PMID:39673454
A multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental., PMID:39625990
Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants., PMID:39625784
Synergistic toxicity of compound heterozygous mutations in the COL4A3 gene causes end-stage renal disease in A large family of Alport syndrome., PMID:39615805
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
Investigation of exon skipping therapy in kidney organoids from Alport syndrome patients derived iPSCs., PMID:39435529
A Novel Deep Learning Approach for Analyzing Glomerular Basement Membrane Lesions in a Mouse Model of X-Linked Alport Syndrome., PMID:39427762
Detection of Alport gene variants in children and young people with persistent haematuria., PMID:39349776
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
Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome., PMID:39184349
Genetic study of Alport syndrome in Tunisia., PMID:39138691
Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndrome., PMID:39134512
Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder., PMID:39125885
Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome., PMID:39071776
Establishment of an induced pluripotent stem cell line from a patient with X-linked Alport syndrome carrying a hemizygous splicing variant (NM_033380; c.929[exon 16]delG) in the collagen type IV alpha 5 chain gene., PMID:39053318
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
Whole-exome Sequencing of Atypical Parathyroid Tumors Detects Novel and Common Genes Linked to Parathyroid Tumorigenesis., PMID:38940486
Comprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma., PMID:38907304
Identification of potential shared gene signatures between gastric cancer and type 2 diabetes: a data-driven analysis., PMID:38903804
Single-cell RNA transcriptomic reveal the mechanism of MSC derived small extracellular vesicles against DKD fibrosis., PMID:38890734
Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of COL4A5 variants., PMID:38883771
Exploring the link between Alport syndrome and multiple intracranial artery stenoses: A case report of COL4A5 mutation., PMID:38880363
The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822-10T>C, which has been identified as a causative factor for Alport syndrome., PMID:38818038
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease., PMID:38790225
An unusual case of nephrotic syndrome., PMID:38780768
For research use only. Not for human or drug use.
