Recombinant Full Length Human AHI1 Protein, GST-tagged
Cat.No. : | AHI1-945HF |
Product Overview : | Human AHI1 full-length ORF ( AAH94800.1, 1 a.a. - 609 a.a.) recombinant protein with GST-tag at N-terminal. |
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Description : | This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] |
Source : | In Vitro Cell Free System |
Species : | Human |
Tag : | GST |
Molecular Mass : | 96.4 kDa |
Protein Length : | 609 amino acids |
AA Sequence : | MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQENEDVFV LISPTMEEY |
Applications : | Enzyme-linked Immunoabsorbent Assay Western Blot (Recombinant protein) Antibody Production Protein Array |
Storage : | Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing. |
Storage Buffer : | 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
Gene Name : | AHI1 Abelson helper integration site 1 [ Homo sapiens ] |
Official Symbol : | AHI1 |
Synonyms : | AHI1; Abelson helper integration site 1; Abelson helper integration site; jouberin; FLJ20069; JBTS3; Jouberin; ORF1; contatins SH3 and WD40 domains; abelson helper integration site 1 protein homolog; AHI-1; dJ71N10.1; FLJ14023; DKFZp686J1653 |
Gene ID : | 54806 |
mRNA Refseq : | NM_001134830 |
Protein Refseq : | NP_001128302 |
MIM : | 608894 |
UniProt ID : | Q8N157 |
Products Types
◆ Recombinant Protein | ||
AHI1-0454H | Recombinant Human AHI1 Protein (Met1-His350), N-His-tagged | +Inquiry |
AHI1-459H | Recombinant Human AHI1 Protein, GST-tagged | +Inquiry |
AHI1-4773Z | Recombinant Zebrafish AHI1 | +Inquiry |
◆ Lysates | ||
AHI1-41HCL | Recombinant Human AHI1 cell lysate | +Inquiry |
Related Gene
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (10)
Ask a questionGene editing technologies like CRISPR/Cas9 hold promise for potential therapeutic interventions in AHI1-related disorders. However, further research is needed to address safety and ethical considerations.
Mouse models with AHI1 gene mutations have been widely used to study the function of the AHI1 protein and its role in ciliopathies.
AHI1 mutations disrupt ciliary transport and signaling, leading to defective cilia formation and function. These defects contribute to the pathogenesis of ciliopathies, such as Joubert syndrome.
The AHI1 protein is involved in regulating the formation and function of primary cilia, which act as sensory organelles and are essential for vesicle trafficking and cell signaling.
Techniques such as co-immunoprecipitation, yeast two-hybrid assays, and proximity-based labeling methods are commonly used to study the interactions of the AHI1 protein with other cellular proteins.
AHI1 mutations disrupt the normal function of the AHI1 protein, affecting ciliogenesis and intraflagellar transport, which are essential processes in the development of the brain's cerebellum and brainstem. This disruption leads to the characteristic features of Joubert syndrome.
AHI1 mutations have been linked to a spectrum of human disorders, including Joubert syndrome and nephronophthisis-related ciliopathies.
The AHI1 protein is known to interact with proteins involved in intraflagellar transport (IFT), such as IFT122 and IFT139, as well as other ciliary-associated proteins.
The transcription of the AHI1 gene can be influenced by various factors, including transcription factors and epigenetic modifications.
The AHI1 protein plays a critical role in various cellular processes, such as ciliogenesis, cell signaling, and vesicle trafficking.
Customer Reviews (5)
Write a reviewWe are thoroughly impressed with the proficiency of this lab protein, and it has undoubtedly elevated the caliber of our research investigations.
I'd give this protein ten stars if I could – it's that good.
This protein has made my experiments feel like a walk in the park – I highly recommend it!
Kudos to the developers of this recombination protein – it's a brilliant scientific tool.
The lab protein product has proven to be a reliable and indispensable tool in our laboratory, delivering reproducible results with utmost precision.
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