Catalog No.
YHK83701
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Gly156-Leu226
Predicted molecular weight
36.85 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q9UBY8
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
Protein CLN8, CLN8, C8orf61
Defective anterograde protein-trafficking contributes to endoplasmic reticulum-stress in a CLN1 disease model., PMID:40158736
TRAM-LAG1-CLN8 family proteins are acyltransferases regulating phospholipid composition., PMID:39970228
2024 Scholars' Research Symposium Abstract: Sex-Split Analysis of Pathology and Motor-Behavioral Outcomes in a Mouse Model Of CLN8-Batten Disease., PMID:39820909
Trehalose Ameliorates Zebrafish Emotional and Social Deficits Caused by CLN8 Dysfunction., PMID:39791756
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases., PMID:39675099
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model., PMID:38763444
Multi-Omics Data Analysis Identifies Prognostic Biomarkers across Cancers., PMID:37489460
Ceramide synthase homolog Tlc4 maintains nuclear envelope integrity via its Golgi translocation., PMID:37078207
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations., PMID:37074398
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes., PMID:36912596
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
Tripeptidyl Peptidase 1 Regulates Human Trophoblast Cell Proliferation Implying a Role in Placentation., PMID:36147632
CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses., PMID:36011304
Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment., PMID:35692423
A novel C-terminal DxRSDxE motif in ceramide synthases involved in dimer formation., PMID:34942147
Neuronal Ceroid Lipofuscinoses in Children., PMID:34220062
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report., PMID:34201538
miR-3074-5p/CLN8 pathway regulates decidualization in recurrent miscarriage., PMID:34044364
The neuronal ceroid lipofuscinosis-related protein CLN8 regulates endo-lysosomal dynamics and dendritic morphology., PMID:34021618
Status dystonicus associated with CLN8 disease., PMID:33358637
Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy., PMID:33242182
AAV9 Gene Therapy Increases Lifespan and Treats Pathological and Behavioral Abnormalities in a Mouse Model of CLN8-Batten Disease., PMID:33010819
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer., PMID:32597833
Preclinical safety and efficacy of 24R,25-dihydroxyvitamin D3 or lactosylceramide treatment to enhance fracture repair., PMID:32518749
Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum., PMID:32430003
Next generation sequencing exome data analysis aids in the discovery of SNP and INDEL patterns in Parkinson's disease., PMID:32348865
Whole-Genome and Transposed Duplication Contributes to the Expansion and Diversification of TLC Genes in Maize., PMID:31689978
The ER protein TLC domain 3B2 and its enzymatic product lactosylceramide enhance chondrocyte maturation., PMID:31462087
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis., PMID:31105743
Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation., PMID:31029456
The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function., PMID:30919163
Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype., PMID:30741402
Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels., PMID:30453012
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis., PMID:30397314
Infantile Epileptic Encephalopathy With Multiple Genetic Mutations: How Important are Variants of Undetermined Significance?, PMID:29961513
Eleven residues determine the acyl chain specificity of ceramide synthases., PMID:29632068
Impact of fluoride and a static magnetic field on the gene expression that is associated with the antioxidant defense system of human fibroblasts., PMID:29630877
Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8., PMID:29446145
Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants., PMID:29422019
Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders., PMID:28901431
NCLs and ER: A stressful relationship., PMID:28390949
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene., PMID:28102781
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog., PMID:28024876
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis., PMID:27881166
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy., PMID:27844444
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population., PMID:26657971
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan., PMID:26443629
For research use only. Not for human or drug use.
