Recombinant Human Adenine phosphoribosyltransferase
Cat.No. : | APRT-1939H |
Product Overview : | Recombinant human APRT protein was expressed inE.coliand purified by using conventional chromatography techniques. 19.6 kDa (180aa). |
- Specification
- Gene Information
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Cat. No. : | APRT-1939H |
Description : | APRT (adenine phosphoribosyltransferase) is a 180 amino acid protein that localizes to the cytoplasm and belongs to the purine/pyrimidine phosphoribosyltransferase family. Existing as a homodimer, APRT functions to catalyze the formation of inorganic pyrophosphate and AMP from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP), a reaction that is essential for both purine metabolism and AMP biosynthesis. It also produces adenine as a by-product of the polyamine biosynthesis pathway. |
Source : | E.coli. |
Purity : | > 90% by SDS – PAGE. |
Physical Appearance : | Liquid. |
Formulation : | In 20 mM Tris-HCl buffer (pH8.0) containing 1mM DTT, 10% glycerol. |
Concentration : | 1 mg/ml (determined by Bradford assay). |
Sequences Of Amino Acids : | MADSELQLVE QRIRSFPDFP TPGVVFRDIS PVLKDPASFR AAIGLLAR HLKATHGG RIDY IAGLDSRGFL FGPSLAQELG LGCVLIRKRGKLPGPTLWAS YSLEYGKAEL EIQKDALEPG QRVVVVDDLL ATGGTMNAAC ELLGRLQAEV LECVSLVELT SLKGREKLAP VPFFSLLQYE. |
Storage : | Can be stored at +4°C short term (1-2 weeks). For long term storage, aliquot and store at -20°C or -70°C. Avoid repeated freezing and thawing cycles. |
Gene Name : | APRT adenine phosphoribosyltransferase [ Homo sapiens ] |
Synonyms : | APRT; adenine phosphoribosyltransferase; AMP; MGC125856; MGC125857; MGC129961; DKFZp686D13177; AMP diphosphorylase; AMP pyrophosphorylase; transphosphoribosidase; EC 2.4.2.7 |
Gene ID : | 353 |
mRNA Refseq : | NM_000485 |
Protein Refseq : | NP_000476 |
MIM : | 102600 |
UniProt ID : | P07741 |
Chromosome Location : | 16q24 |
Pathway : | Metabolic pathways; Purine metabolism; Metabolism of nucleotides |
Function : | AMP binding; adenine binding; adenine phosphoribosyltransferase activity; protein binding; transferase activity, transferring glycosyl groups |
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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 (22)
Ask a questionThe symptoms of APRT deficiency may include recurrent kidney stones, abdominal pain, blood in the urine (hematuria), urinary tract infections, and, in some cases, kidney damage or failure.
There are several support groups and resources available for individuals and families affected by APRT deficiency. Examples include the APRT Deficiency Foundation and various online communities where individuals can connect, share experiences, and access information and support.
Individuals with APRT deficiency should avoid medications that can increase the production or accumulation of adenine, such as certain diuretics, chemotherapy drugs, and supplements containing high levels of adenine or purines.
Yes, APRT deficiency can be managed through dietary modifications, medication (such as allopurinol to reduce adenine levels), and the prevention or treatment of kidney stones. In severe cases, kidney transplant may be necessary.
Yes, APRT deficiency is an inherited condition caused by mutations in the APRT gene. It follows an autosomal recessive pattern of inheritance, meaning that individuals need to inherit two copies of the mutated gene (one from each parent) to develop the condition.
APRT deficiency can be diagnosed through laboratory tests, such as measuring the levels of APRT enzyme activity in the blood or urine, and genetic testing to identify mutations in the APRT gene.
APRT deficiency has been reported in various population groups, but its prevalence may vary among different ethnicities. For example, the condition appears to be more common in individuals of Japanese descent compared to other populations.
If the APRT protein is deficient or dysfunctional, it can lead to a rare genetic disorder called APRT deficiency. This condition can result in the accumulation of excessive amounts of adenine in the body, leading to the formation of kidney stones and other health problems.
Yes, prenatal diagnosis of APRT deficiency is possible through genetic testing. This can be performed through chorionic villus sampling or amniocentesis to analyze the DNA of the fetus and determine if they have inherited the mutated APRT gene.
Yes, there are ongoing research efforts and clinical trials focused on understanding APRT deficiency, developing improved diagnostic methods, and exploring potential treatment options. These studies aim to further our knowledge and improve care for individuals with the condition.
The most common symptom of APRT deficiency is the formation of kidney stones made of 2,8-dihydroxyadenine, which can cause severe pain and discomfort. Other symptoms may include blood in the urine, urinary tract infections, and occasionally, kidney damage or kidney failure.
Research on APRT deficiency and the APRT protein continues to advance, focusing on understanding the underlying mechanisms of the disorder, developing better diagnostic methods, and exploring potential novel treatment approaches.
Yes, mutations in the APRT gene can lead to APRT deficiency. There are several known genetic variants that can affect the function of the APRT protein and contribute to the development of the disorder.
APRT deficiency cannot be prevented since it is an inherited condition. However, genetic counseling and testing can help assess the risk of passing on the condition and guide family planning decisions.
Making certain lifestyle changes can help individuals with APRT deficiency. These may include maintaining good hydration, following a balanced diet to manage purine intake, and avoiding medications that may exacerbate kidney stone formation.
Currently, there is no known cure for APRT deficiency. However, with proper management and treatment, the symptoms and complications can be controlled, allowing individuals to lead relatively normal lives.
The APRT protein utilizes the enzyme activity of phosphoribosyltransferase to transfer a phosphoribosyl group from phosphoribosyl pyrophosphate (PRPP) to adenine. This results in the formation of AMP and pyrophosphate.
APRT deficiency is considered to be a rare disorder, with its prevalence varying among different populations. It is estimated to affect approximately 1 in 100,000 to 200,000 individuals globally.
Currently, the primary known function of the APRT protein is its role in the adenine metabolism pathway. However, further research may identify additional roles or functions associated with this protein.
While the primary manifestation of APRT deficiency is the formation of kidney stones, there have been reports of abnormalities in other body systems, such as the liver and skeletal system. However, these occurrences are relatively rare and not typically seen in all individuals with the condition.
Yes, untreated or poorly managed APRT deficiency can lead to recurrent kidney stones, which may cause kidney damage or even kidney failure if left untreated. It is important to diagnose and manage the condition to prevent such complications.
The treatment of APRT deficiency primarily involves managing and preventing the formation of kidney stones. This may include increasing fluid intake, taking medications to reduce the production of 2,8-dihydroxyadenine, and avoiding certain foods high in purines. In severe cases, surgical intervention may be necessary to remove kidney stones.
Customer Reviews (4)
Write a reviewThis collaborative partnership contributes to a productive and efficient research experience, as I can rely on their expertise and assistance throughout the process.
The manufacturer's excellent technical support, commitment to innovation, and customer-centric approach position them as an invaluable resource.
the APRT protein is of exceptional quality, perfectly suiting my experimental needs.
They actively listen to my experimental needs and tailor their services accordingly, recognizing the unique requirements of my research.
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