Catalog No.
YHK83801
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Asp131-Glu174
Predicted molecular weight
33.49 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q9NWW5
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
Ceroid-lipofuscinosis neuronal protein 6, CLN6, Protein CLN6
Expanded Phenotype of the Cln6nclf Mouse Model., PMID:40358187
Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease., PMID:40206986
2024 Scholars' Research Symposium Abstract: Sex-Split Analysis of Pathology and Motor-Behavioral Outcomes in a Mouse Model Of CLN8-Batten Disease., PMID:39820909
CLN6-related continuum phenotype caused by aberrant splicing., PMID:39718800
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases., PMID:39675099
Pro-cathepsin D prevents aberrant protein aggregation dependent on endoplasmic reticulum protein CLN6., PMID:39032464
Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6., PMID:38927597
Mutations in CLCN6 as a Novel Genetic Cause of Neuronal Ceroid Lipofuscinosis in Patients and a Murine Model., PMID:38877824
Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6., PMID:38866396
Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil., PMID:38857616
A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease., PMID:38771523
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia., PMID:38653183
Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease., PMID:38531163
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families., PMID:38382230
Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia., PMID:38352418
Developmental Skills and Neurorehabilitation for Children With Batten Disease: A Retrospective Chart Review of a Comprehensive Batten Clinic., PMID:38242022
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy., PMID:38003592
Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease., PMID:37899458
Adult-onset Kufs disease., PMID:37802651
Genetic and sporadic forms of tauopathies-TAU as a disease driver for the majority of patients but the minority of tauopathies., PMID:37795931
Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes., PMID:37353388
Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease)., PMID:37246363
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations., PMID:37074398
A Novel Glycolysis-Related Signature for Predicting the Prognosis and Immune Infiltration of Uveal Melanoma., PMID:36858025
Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8mnd mice., PMID:36369162
Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses., PMID:36368077
Weak evidence for a relation between bipolar disorder and heterozygous ZNF92 and CLN6 variants., PMID:36261122
Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand., PMID:36137348
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses., PMID:35921411
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder., PMID:35881528
Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment., PMID:35692423
Juvenile-Onset Kufs Disease in a Chinese Consanguineous Family due to CLN6 Mutation., PMID:35609511
Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses., PMID:35509995
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center., PMID:35505348
Aggregation chimeras provide evidence of in vivo intercellular correction in ovine CLN6 neuronal ceroid lipofuscinosis (Batten disease)., PMID:35404973
Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses., PMID:35256654
Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis., PMID:35140099
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience., PMID:35012600
A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature., PMID:34868216
p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis., PMID:34597687
[Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family]., PMID:34481439
CLN6 deficiency causes selective changes in the lysosomal protein composition., PMID:34432360
Peptide barcodes in dogs affected by mitral valve disease with and without pulmonary hypertension using MALDI-TOF MS and LC-MS/MS., PMID:34383793
CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses., PMID:34380921
Neuronal Ceroid Lipofuscinoses in Children., PMID:34220062
Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease., PMID:33930398
Pearls & Oy-sters: Levodopa-Responsive Adult NCL (Type B Kufs Disease) Due to CLN6 Mutation., PMID:33875558
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes., PMID:33798445
For research use only. Not for human or drug use.
