Catalog No.
YHK83601
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Asn359-Pro412
Predicted molecular weight
34.46 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q8NHS3
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
CLN7, MFSD8, Major facilitator superfamily domain-containing protein 8, Ceroid-lipofuscinosis neuronal protein 7
Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease., PMID:40485231
Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease., PMID:40206986
Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study., PMID:40101946
Non-targeted Metabolomics Reveals the Potential Role of MFSD8 in Metabolism in Human Endothelial Cells., PMID:39992484
Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills., PMID:39702211
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases., PMID:39675099
Phenotypic variability observed in a Chinese patient cohort with biallelic variants in the CLN genes., PMID:39563673
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants., PMID:39108195
Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis., PMID:38712841
Recognizing Lipofuscinosis as a Guide in Antiepileptic Treatment: Clinical Description of the First Mexican Case With Neuronal Ceroid Lipofuscinosis Type 7 (NCL7)., PMID:38659533
The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy., PMID:38153683
Loss of mfsd8 alters the secretome during Dictyostelium aggregation., PMID:37742391
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency., PMID:37090936
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations., PMID:37074398
[Clinical characteristics and genetic analysis of a case with adult neuronal ceroid lipofuscinosis type 7 due to variant of MFSD8 gene]., PMID:36972931
Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes., PMID:36912596
A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy., PMID:36861499
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8., PMID:36833170
CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry., PMID:36093380
Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7., PMID:35917699
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy., PMID:35801630
Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia., PMID:35768750
Mfsd8 Modulates Growth and the Early Stages of Multicellular Development in Dictyostelium discoideum., PMID:35756993
Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants., PMID:35525134
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants., PMID:35457110
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability., PMID:35216386
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis., PMID:35087090
AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease., PMID:35025759
Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma., PMID:34348663
Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China., PMID:33226711
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers., PMID:32412666
N-of-1 drugs push biopharma frontiers., PMID:32127676
Mfsd8 localizes to endocytic compartments and influences the secretion of Cln5 and cathepsin D in Dictyostelium., PMID:32087303
Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis., PMID:31909682
Probable role for major facilitator superfamily domain containing 6 (MFSD6) in the brain during variable energy consumption., PMID:31906755
A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis., PMID:31860737
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy., PMID:31721179
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease., PMID:31597037
[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]., PMID:31216804
Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis., PMID:31105743
MFSD8 gene mutations; evidence for phenotypic heterogeneity., PMID:31006324
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia., PMID:30382371
A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival., PMID:30301600
Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report., PMID:30249282
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report., PMID:30144815
Discovery of a CLN7 model of Batten disease in non-human primates., PMID:30048804
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation., PMID:29514215
Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression., PMID:28878041
For research use only. Not for human or drug use.
