Catalog No.
YHN19201
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met1-Thr126
Predicted molecular weight
16.17 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q9NP73
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
CXorf45, GLT28D1, Asparagine-linked glycosylation 13 homolog, UDP-N-acetylglucosamine transferase subunit ALG13 homolog, Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13, ALG13, Glycosyltransferase 28 domain-containing protein 1
ALG13-Related Epilepsy: Current Insights and Future Research Directions., PMID:39673593
Sevoflurane suppresses ALG13 transcription in a CREBBP-dependent manner to induce hippocampal damage and cognitive impairment., PMID:39492504
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation., PMID:39311797
Sex-specific survival gene mutations are discovered as clinical predictors of clear cell renal cell carcinoma., PMID:38982123
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines., PMID:38703411
X-Linked Epilepsies: A Narrative Review., PMID:38612920
Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis., PMID:38491957
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India., PMID:37583270
Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic Diet., PMID:37469072
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation., PMID:36930724
Decreased cognitive function of ALG13KO female mice may be related to the decreased plasticity of hippocampal neurons., PMID:36152356
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia., PMID:36017582
Agl24 is an ancient archaeal homolog of the eukaryotic N-glycan chitobiose synthesis enzymes., PMID:35394422
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG., PMID:35327592
[New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient]., PMID:35319586
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1., PMID:35279850
Could distal variants in ALG13 lead to atypical clinical presentation?, PMID:35240324
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant., PMID:33807002
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes., PMID:33734437
Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?, PMID:33576051
Congenital Disorders of Glycosylation from a Neurological Perspective., PMID:33440761
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy., PMID:33410528
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up., PMID:33407696
ALG13 participates in epileptogenesis via regulation of GABAA receptors in mouse models., PMID:33014431
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions., PMID:32681751
Distinct expression and prognostic value of OTU domain-containing proteins in non-small-cell lung cancer., PMID:31612050
X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls., PMID:31444733
Dysregulation of DNA methylation patterns may identify patients with breast cancer resistant to endocrine therapy: A predictive classifier based on differentially methylated regions., PMID:31423189
ALG13 Deficiency Associated with Increased Seizure Susceptibility and Severity., PMID:30872163
Structural and functional analysis of Alg1 beta-1,4 mannosyltransferase reveals the physiological importance of its membrane topology., PMID:29939232
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs., PMID:28940310
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature., PMID:28778787
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing., PMID:28777499
Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation., PMID:28178702
The role of Alg13 N-acetylglucosaminyl transferase in the expression of pathogenic features of Candida albicans., PMID:28130153
Featured Article: Transcriptional landscape analysis identifies differently expressed genes involved in follicle-stimulating hormone induced postmenopausal osteoporosis., PMID:27856519
The multiple evolutionary origins of the eukaryotic N-glycosylation pathway., PMID:27492357
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies., PMID:27476654
Origin of polyproline-rich peptides in human butyrylcholinesterase tetramers., PMID:26876904
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders., PMID:26482601
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome., PMID:25877686
Early targets of miR-34a in neuroblastoma., PMID:24912852
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings., PMID:24501762
De novo mutations in epileptic encephalopathies., PMID:23934111
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene., PMID:23686279
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14., PMID:23404334
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing., PMID:22492991
An engineered eukaryotic protein glycosylation pathway in Escherichia coli., PMID:22446837
Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis., PMID:22061998
For research use only. Not for human or drug use.
