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Recombinant Human AMPD2 293 Cell Lysate

Cat.No. : AMPD2-8876HCL
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  • Gene Information
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Description : Antigen standard for adenosine monophosphate deaminase 2 (AMPD2), transcript variant 2 is a lysate prepared from HEK293T cells transiently transfected with a TrueORF gene-carrying pCMV plasmid and then lysed in RIPA Buffer. Protein concentration was determined using a colorimetric assay. The antigen control carries a C-terminal Myc/DDK tag for detection.
Source : HEK 293 cells
Species : Human
Components : This product includes 3 vials: 1 vial of gene-specific cell lysate, 1 vial of control vector cell lysate, and 1 vial of loading buffer. Each lysate vial contains 0.1 mg lysate in 0.1 ml (1 mg/ml) of RIPA Buffer (50 mM Tris-HCl pH7.5, 250 mM NaCl, 5 mM EDTA, 50 mM NaF, 1% NP40). The loading buffer vial contains 0.5 ml 2X SDS Loading Buffer (125 mM Tris-Cl, pH6.8, 10% glycerol, 4% SDS, 0.002% Bromophenol blue, 5% beta-mercaptoethanol).
Size : 0.1 mg
Storage Instruction : Store at -80°C. Minimize freeze-thaw cycles. After addition of 2X SDS Loading Buffer, the lysates can be stored at -20°C. Product is guaranteed 6 months from the date of shipment.
Applications : ELISA, WB, IP. WB: Mix equal volume of lysates with 2X SDS Loading Buffer. Boil the mixture for 10 min before loading (for membrane protein lysates, incubate the mixture at room temperature for 30 min). Load 5 ug lysate per lane.
Gene Name : AMPD2 adenosine monophosphate deaminase 2 [ Homo sapiens ]
Official Symbol : AMPD2
Synonyms : AMPD2; adenosine monophosphate deaminase 2; adenosine monophosphate deaminase 2 (isoform L); AMP deaminase 2; AMPD isoform L; AMPD;
Gene ID : 271
mRNA Refseq : NM_001257360
Protein Refseq : NP_001244289
MIM : 102771
UniProt ID : Q01433
Chromosome Location : 1p13.3
Pathway : Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of nucleotides, organism-specific biosystem; Purine metabolism, organism-specific biosystem; Purine metabolism, organism-specific biosystem; Purine metabolism, conserved biosystem; Purine salvage, organism-specific biosystem;
Function : AMP deaminase activity; hydrolase activity; metal ion binding;

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 (15)

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Are there any treatments available for AMPD2 protein deficiency? 04/30/2023

Currently, there is no specific treatment for AMPD2 protein deficiency. Management of the condition is typically focused on symptomatic and supportive care. Physical therapy and exercise programs can help improve muscle strength and function. In some cases, medications such as coenzyme Q10 or ribose supplements may be prescribed, but their effectiveness is not well-established.

Is AMPD2 protein deficiency a rare condition? 04/21/2023

Yes, AMPD2 protein deficiency is considered a rare condition. It has been reported in only a small number of individuals worldwide. However, the exact prevalence of the disorder is not well-established due to its rarity and possibly underdiagnosed cases.

Can AMPD2 protein deficiency be detected through newborn screening? 08/14/2022

At present, AMPD2 protein deficiency is not included in routine newborn screening programs. It is typically diagnosed based on clinical presentation, genetic testing, and biochemical analysis.

What are the common symptoms of AMPD2 protein deficiency? 08/13/2021

The symptoms of AMPD2 protein deficiency are still being studied, and the full spectrum of clinical manifestations is not yet completely understood. However, some studies suggest that it may be associated with muscle-related symptoms such as exercise intolerance, muscle weakness, and myopathy (muscle disease). Additionally, some individuals may present with intellectual disability or developmental delays.

How is AMPD2 protein deficiency diagnosed? 08/20/2020

The diagnosis of AMPD2 protein deficiency typically involves a combination of clinical evaluation, genetic testing, and biochemical analysis. Clinical symptoms and family history are taken into consideration. Genetic testing can identify mutations in the AMPD2 gene. Biochemical analysis may involve measuring the activity of adenylate kinase enzyme in blood or other samples.

Can AMPD2 protein deficiency be inherited? 08/01/2020

Yes, AMPD2 protein deficiency can be inherited. It follows an autosomal recessive pattern of inheritance, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. If both parents are carriers of the mutation but do not have symptoms themselves, each child has a 25% chance of inheriting the mutated gene from both parents and developing AMPD2 protein deficiency.

Are there any known disorders or conditions associated with AMPD2 protein deficiency? 11/19/2019

AMPD2 protein deficiency has been primarily associated with muscle-related symptoms such as exercise intolerance, muscle weakness, and myopathy. Some studies have also suggested an association with intellectual disability or developmental delays. However, further research is needed to fully understand the spectrum of disorders and conditions related to this deficiency.

Can individuals with AMPD2 protein deficiency lead normal lives? 07/31/2019

The impact of AMPD2 protein deficiency on an individual's life can vary. Some individuals may experience mild symptoms and be able to lead relatively normal lives, while others may have more pronounced impairments. The management of symptoms and supportive care can play a significant role in optimizing an individual's quality of life. It is important to work closely with healthcare professionals to develop an individualized care plan.

Can AMPD2 protein deficiency be prevented? 07/14/2019

As AMPD2 protein deficiency is a genetic disorder, it cannot be prevented. However, genetic counseling and testing can help identify carriers of the mutation and provide information for family planning decisions. In the future, advancements in gene therapy or other treatment approaches may offer potential preventive options, but such techniques are still under investigation.

Are there any ongoing research studies or clinical trials for AMPD2 protein deficiency? 04/05/2019

As of now, there is limited research and clinical trials specifically focused on AMPD2 protein deficiency. However, research in the field of genetic and metabolic disorders is ongoing, and there may be studies investigating related areas or potential treatment options. It is important to consult with geneticists or healthcare professionals and stay updated on scientific literature or clinical trial databases for any new developments in the field.

Is there a specific treatment for AMPD2 protein deficiency? 10/10/2018

Currently, there is no specific treatment or cure for AMPD2 protein deficiency. Management primarily involves addressing symptoms and providing supportive care. Physical therapy may be beneficial for muscle-related symptoms. Additionally, maintaining a balanced diet and promoting overall health and well-being can be important for individuals with AMPD2 protein deficiency.

Can AMPD2 protein deficiency have different levels of severity? 06/21/2018

The severity of AMPD2 protein deficiency can vary among affected individuals. Some individuals may have mild or no symptoms and can lead relatively unaffected lives, while others may experience more severe problems such as muscle weakness or intellectual disability. The specific genetic mutations and their impact on enzyme activity can contribute to the variation in severity.

Are there any ongoing research studies or clinical trials related to AMPD2 protein deficiency? 06/10/2018

Research studies and clinical trials related to AMPD2 protein deficiency may be ongoing, but it is essential to consult reputable sources, such as clinical trial registries or research institutes, to get the most up-to-date information. Engaging with medical professionals or geneticists familiar with the condition can also provide insights into ongoing research and potential participation opportunities.

Can genetic testing be done to diagnose AMPD2 protein deficiency? 03/03/2018

Yes, genetic testing can be done to diagnose AMPD2 protein deficiency. It involves analyzing the AMPD2 gene for any mutations or variations that may impair the function or production of the AMPD2 enzyme. Genetic testing can be used for diagnostic purposes, to confirm the presence of the deficiency, and for carrier testing to identify individuals who carry a single copy of the mutated gene but do not have the condition themselves.

Are there any known genetic mutations associated with AMPD2 protein deficiency? 12/12/2017

Yes, mutations in the AMPD2 gene have been identified as the cause of AMPD2 protein deficiency. These mutations can affect the structure or function of the enzyme, leading to a decrease in its activity or complete loss of function.

Customer Reviews (5)

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Reviews
06/29/2022

    I am particularly impressed by Ampd2 protein's versatility and reliability across different experimental techniques, showcasing its robustness and suitability for a wide range of research applications.

    06/06/2021

      In my ELISA experiments, Ampd2 protein consistently provided reliable and reproducible results, with high sensitivity and specificity.

      07/08/2019

        I enthusiastically endorse Ampd2 protein as it delivers exceptional performance in a wide range of applications.

        06/03/2019

          In protein electron microscopy structure analysis, Ampd2 protein proved to be an invaluable tool, allowing for the precise determination of protein structures with remarkable clarity and resolution.

          11/04/2016

            This unequivocal detection and visualization of protein bands were instrumental in facilitating accurate analysis and interpretation of my experimental data.

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