Catalog No.
YHJ20701
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met1-His350
Predicted molecular weight
42.08 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q8N157
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
AHI1, Jouberin, AHI-1, Abelson helper integration site 1 protein homolog
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis., PMID:40448720
Exploring the role of EBV in multiple sclerosis pathogenesis through EBV interactome., PMID:40242760
Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors., PMID:39896654
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro., PMID:38502237
Abelson Helper Integration Site 1 haplotypes and peripheral blood expression associates with lithium response and immunomodulation in bipolar patients., PMID:38036661
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene., PMID:37910852
Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome., PMID:37547536
Comparative Genomic and Transcriptomic Analyses Reveal the Impacts of Genetic Admixture in Kazaks, Uyghurs, and Huis., PMID:36869755
The mitochondrial Ahi1/GR participates the regulation on mtDNA copy numbers and brain ATP levels and modulates depressive behaviors in mice., PMID:36691038
piRNA and miRNA Can Suppress the Expression of Multiple Sclerosis Candidate Genes., PMID:36615932
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome., PMID:36580738
AHI1: linking depression and impaired antiviral immune response., PMID:35859186
Depression compromises antiviral innate immunity via the AVP-AHI1-Tyk2 axis., PMID:35821088
Prognostic utility of key copy number alterations in T cell acute lymphoblastic leukemia., PMID:35644022
Ahi1 regulates serotonin production by the GR/ERβ/TPH2 pathway involving sexual differences in depressive behaviors., PMID:35643536
Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis., PMID:35394880
A Joint Model of Random Forest and Artificial Neural Network for the Diagnosis of Endometriosis., PMID:35350240
Genotype-phenotype correlates in Joubert syndrome: A review., PMID:35238134
Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants., PMID:34627237
Erythropoietin levels in children with obstructive sleep apnea., PMID:34619581
[Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases]., PMID:34308544
Stress modulates Ahi1-dependent nuclear localization of ten-eleven translocation protein 2., PMID:34218273
A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype., PMID:34205586
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum., PMID:34191236
Identification of COL6A1 as the Key Gene Associated with Antivascular Endothelial Growth Factor Therapy in Glioblastoma Multiforme., PMID:33970702
Ahi1 regulates the nuclear translocation of glucocorticoid receptor to modulate stress response., PMID:33782379
The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway., PMID:33741721
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome., PMID:33131181
Autism spectrum disorder-like behavior caused by reduced excitatory synaptic transmission in pyramidal neurons of mouse prefrontal cortex., PMID:33046712
Ciliopathies and the Kidney: A Review., PMID:33039432
Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing., PMID:32901921
The plasma peptides of sepsis., PMID:32636717
[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome]., PMID:32335874
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders., PMID:32139166
Alzheimer's Disease and Diabetes: Insulin Signaling as the Bridge Linking Two Pathologies., PMID:31900863
Reduction of AHI1 in the serum of Taiwanese with probable Alzheimer's disease., PMID:31786207
Schizotypy and altered hemispheric asymmetries: The role of cilia genes., PMID:31683112
Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration., PMID:31391239
Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome., PMID:31202121
Expression of AHI1 Rescues Amyloidogenic Pathology in Alzheimer's Disease Model Cells., PMID:31062249
Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish., PMID:30970040
Mutant Ahi1 Affects Retinal Axon Projection in Zebrafish via Toxic Gain of Function., PMID:30949029
Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement., PMID:30695685
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center., PMID:30055837
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT., PMID:29987673
Effect of chronic unpredictable stress on mice with developmental under-expression of the Ahi1 gene: behavioral manifestations and neurobiological correlates., PMID:29967406
Tyrosine hydroxylase down-regulation after loss of Abelson helper integration site 1 (AHI1) promotes depression via the circadian clock pathway in mice., PMID:29449373
The multiple sclerosis risk allele within the AHI1 gene is associated with relapses in children and adults., PMID:29409597
Prenatal diagnosis of Joubert syndrome: A case report and literature review., PMID:29390414
For research use only. Not for human or drug use.
