Catalog No.
YHK05301
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
His34-Phe236
Predicted molecular weight
24.71 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q9H251
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
Cadherin-23, Otocadherin, KIAA1774, CDH23, KIAA1812
Zebrafish cdh23 Affects Rod Cell Phototransduction Through Regulating Ca2+ Transport and MAPK Signaling Pathway., PMID:40429749
C57BL/6-derived mice and the Cdh23ahl allele - Background matters., PMID:40305983
Generation of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant., PMID:40184886
Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants., PMID:40164689
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct., PMID:40121402
Clinical Exome Sequencing Identifies, Two Homozygous LOXHD1 Variants in Two Inbred Families With Pre-Lingual Hearing Loss From South India., PMID:40070250
Discovering the pathogenesis of a VUS variant in CDH23 associated with sensorineural hearing loss in an Iranian family., PMID:40047980
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study., PMID:40037090
Cdh23 Gene Mutation-Induced Vestibular Dysfunction in Mice: Abnormal Stereocilia Bundle and Otolith Development and Activation of p53/FoxO Signaling Pathway., PMID:39966205
Limiting Hearing Loss in Transgenic Mouse Models., PMID:39900508
Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss., PMID:39777619
Cadherin 23 is a prognostic marker of pancreatic cancer and promotes cell viability in floating culture conditions., PMID:39744166
Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders., PMID:39684270
Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss., PMID:39596651
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease., PMID:39596324
Protective Efficacy of T-type, Calcium Channel Antagonist on Auditory Function in Cdh23 Erl/Erl Mice., PMID:39480672
Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients., PMID:39467922
Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system., PMID:39393808
Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines., PMID:39337481
Identification of novel CDH23 variants linked to hearing loss in a Chinese family: A case report., PMID:39287240
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss., PMID:39271758
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis., PMID:39107234
Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23., PMID:39092760
Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality., PMID:39054721
A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy., PMID:39044131
Stereocilia fusion pathology in the cochlear outer hair cells at the nanoscale level., PMID:39037943
CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History., PMID:39017633
A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction., PMID:38981620
Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23., PMID:38878669
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants., PMID:38860500
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants., PMID:38720048
Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system., PMID:38645107
Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population., PMID:38546281
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades., PMID:38534090
Disruption of Cdh23 exon 68 splicing leads to progressive hearing loss in mice by affecting tip-link stability., PMID:38408254
Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9., PMID:38218018
Interactions of genetic variations in FAS, GJB2 and PTPRN2 are associated with noise-induced hearing loss: a case-control study in China., PMID:38212800
Using the Bayesian variational spike and slab model in a genome-wide association study for finding associated loci with bipolar disorder., PMID:38161273
Treatment following Triple-AAV Delivery in Mature Murine Model of Human CDH23-Associated Hearing Loss., PMID:38132436
RNA-seq analysis highlights DNA replication and DNA repair associated with early-onset hearing loss in the cochlea of DBA/2J mice., PMID:38103727
Whole-genome resequencing reveals new mutations in candidate genes for Beichuan-white goat prolificacya., PMID:37729465
Pediatric Macrocorticotropinoma: Do They Differ from Microcorticotropinoma?, PMID:37634509
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review., PMID:37466950
Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics., PMID:37452347
Impacts of an age-related hearing loss allele of cadherin 23 on severity of hearing loss in ICR and NOD/Shi mice., PMID:37419036
A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation., PMID:37088079
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis., PMID:37086676
Control of stereocilia length during development of hair bundles., PMID:37011103
RBM24 is required for mouse hair cell development through regulating pre-mRNA alternative splicing and mRNA stability., PMID:36947695
For research use only. Not for human or drug use.
