Recombinant Human ALAS1 293 Cell Lysate
- Gene Information
- Related Products
|Description :||Antigen standard for aminolevulinate, delta-, synthase 1 (ALAS1), 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|
|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 :||ALAS1 aminolevulinate, delta-, synthase 1 [ Homo sapiens ]|
|Official Symbol :||ALAS1|
|Synonyms :||ALAS1; aminolevulinate, delta-, synthase 1; ALAS, ALAS3; 5-aminolevulinate synthase, nonspecific, mitochondrial; ALAS-H; delta-ALA synthase 1; migration-inducing protein 4; 5-aminolevulinic acid synthase 1; delta-aminolevulinate synthase 1; ALAS; MIG4; ALAS3; ALASH;|
|Gene ID :||211|
|mRNA Refseq :||NM_199166|
|Protein Refseq :||NP_954635|
|UniProt ID :||P13196|
|Chromosome Location :||3p21|
|Pathway :||FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem; Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem; Glycine, serine and threonine metabolism, organism-specific biosystem; Glycine, serine and threonine metabolism, conserved biosystem; Heme Biosynthesis, organism-specific biosystem; Heme biosynthesis, organism-specific biosystem; Metabolic pathways, organism-specific biosystem;|
|Function :||5-aminolevulinate synthase activity; pyridoxal phosphate binding; transferase activity, transferring acyl groups; transferase activity, transferring nitrogenous 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.
Q&As (25)Ask a question
ALAS1 levels can be measured in research settings using techniques like qRT-PCR or immunoblotting. However, it is not commonly measured in routine clinical practice as a diagnostic or monitoring tool.
The symptoms of ALAS1 deficiency can vary widely depending on the severity of the condition. Common symptoms include chronic anemia, fatigue, pale skin, shortness of breath, and rapid heart rate. Some individuals may also experience abdominal pain, enlarged liver or spleen, yellowing of the skin and eyes (jaundice), and poor growth and development in children. In severe cases, neurological symptoms such as muscle weakness, seizures, and sensory disturbances may occur.
Currently, there are no specific experimental treatments or clinical trials specifically targeted at ALAS1 deficiency. However, as research advances and more is understood about the condition, there may be opportunities for individuals to participate in studies or trials investigating potential therapies. It is recommended to stay informed about ongoing research efforts and consult with a healthcare professional to explore any available options.
ALAS1 is primarily found in the liver and bone marrow, where heme synthesis is highly active. However, low levels of ALAS1 expression have been detected in other tissues, such as the kidney, brain, and muscles. The exact significance and function of ALAS1 in these tissues are still being explored.
Several compounds have been identified as potential inhibitors of ALAS1, including succinyl acetone and certain synthetic derivatives. Additionally, certain molecules like heme or heme precursors can activate ALAS1 expression. However, these compounds and their potential use as therapeutic agents require further research and development.
ALAS1 expression is regulated at multiple levels, including transcriptional control by factors like erythroid transcription factors and the heme-regulated eIF2α kinase. It can also be modulated post-transcriptionally, such as by feedback inhibition by heme.
The severity of ALAS1 deficiency usually remains fairly stable over time. Some individuals may experience fluctuating symptoms due to factors like infections or stress. However, without proper treatment and management, the condition typically progresses and can lead to long-term complications. Regular medical care and monitoring are essential to address symptoms and prevent complications.
Yes, ALAS1 deficiency is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated ALAS1 gene for their child to be affected. Carriers of a single mutated gene are usually asymptomatic but have a 50% chance of passing the mutated gene to each of their children, who would then need to inherit a second mutated gene from the other parent to develop the condition.
The symptoms of ALAS1 deficiency or dysregulation can vary depending on the specific underlying condition. However, symptoms may include anemia (low red blood cell count), fatigue, pale skin, shortness of breath, weakness, and other complications related to impaired heme production.
Currently, there is no specific cure for ALAS1 deficiency. However, the treatment primarily focuses on managing the symptoms and complications associated with the condition. This may involve blood transfusions to address anemia, iron chelation therapy to reduce iron overload, and supportive care to manage other symptoms. It is important to consult with a healthcare professional for personalized treatment recommendations.
Yes, prenatal diagnosis is possible for ALAS1 deficiency through genetic testing. If there is a known family history of the condition or if both parents are carriers, prenatal testing can be performed using techniques such as chorionic villus sampling (CVS) or amniocentesis to analyze the fetal DNA for ALAS1 gene mutations. However, it is essential to consult with a genetic counselor or healthcare professional to understand the benefits, limitations, and potential risks of prenatal testing.
X-linked sideroblastic anemia is caused by mutations in the ALAS2 gene, which is responsible for expressing a different isoform of 5'-aminolevulinate synthase (ALAS2) in erythroid cells. However, ALAS1 deficiency can also contribute to sideroblastic anemia if it affects heme production in non-erythroid cells.
Since ALAS1 deficiency is a genetic disorder, it cannot be entirely prevented. However, genetic counseling and carrier testing can be helpful for individuals with a family history of ALAS1 deficiency. Identifying carriers can provide information about the risk of passing the condition on to future generations and aid in making informed reproductive decisions.
Yes, ALAS1 deficiency is considered a genetic disorder. It is caused by mutations in the ALAS1 gene, which can result in reduced or impaired activity of the ALAS1 enzyme. ALAS1 deficiency follows an autosomal recessive inheritance pattern, which means that both copies of the ALAS1 gene must carry mutations for the condition to manifest.
ALAS1 deficiency is diagnosed through a combination of clinical evaluation, genetic testing, and laboratory tests. The initial step usually involves assessing a person's symptoms, medical history, and family history. Genetic testing is then performed to identify any mutations in the ALAS1 gene.
ALAS1 deficiency is an extremely rare disorder. The exact prevalence of the condition is unknown, but it is estimated that only a few dozen cases have been reported in the medical literature. The rarity of ALAS1 deficiency makes it challenging to diagnose and treat, as there is limited awareness and understanding of the condition.
Since ALAS1 deficiency is a genetic condition, it cannot be prevented if both parents are carriers of the mutated gene. However, genetic counseling and testing can help identify carriers and assist individuals and families in making informed decisions about family planning. This can include options such as preimplantation genetic diagnosis (PGD) or prenatal testing to assess the risk of passing on the condition to future children.
Since ALAS1 is involved in the crucial step of heme biosynthesis, it has the potential to be targeted for therapeutic interventions. However, developing treatments targeting ALAS1 is challenging due to its complex regulation and the need to carefully balance heme production.
Yes, ALAS1 plays a crucial role in the production of heme, and mutations or dysregulation in genes related to heme synthesis can lead to various porphyria disorders. In some forms of porphyria, there can be alterations in ALAS1 expression or activity, resulting in abnormal accumulation of heme precursors.
The long-term consequences of ALAS1 deficiency can vary depending on the severity of the condition and the extent of heme deficiency. Chronic anemia and iron overload can lead to complications such as organ damage, heart problems, growth and developmental delays in children, and increased susceptibility to infections. Regular monitoring and appropriate management are crucial to mitigate these potential long-term consequences.
ALAS1 deficiency can be diagnosed through various methods. One common approach is to measure the levels of ALAS1 enzyme activity in red blood cells or other tissues through laboratory testing. Genetic testing can also be performed to identify mutations in the ALAS1 gene. Additionally, clinical evaluation and assessment of symptoms, along with other diagnostic tests such as complete blood count (CBC) and iron studies, can help in diagnosing ALAS1 deficiency.
Yes, there are ongoing research efforts focused on better understanding ALAS1 deficiency and developing potential treatments. This includes studying the underlying genetics, investigating novel therapeutic approaches, and exploring ways to improve symptom management and quality of life for affected individuals. However, due to the rarity of the condition, research and clinical trials are limited, and progress is relatively slow.
Currently, there is no cure for ALAS1 deficiency. Treatment primarily focuses on managing symptoms and complications. This may include regular blood transfusions to address anemia, medication to manage pain and other symptoms, and therapies to optimize overall health and well-being. In some cases, liver transplantation has been considered for individuals with severe complications related to the disorder. However, the effectiveness and long-term outcomes of this treatment option are still being evaluated.
While ALAS1 dysregulation is often associated with reduced enzyme activity, there can be conditions where ALAS1 is overexpressed. For example, ALAS1 overexpression has been observed in certain cancers, such as hepatocellular carcinoma. However, the exact implications of ALAS1 overexpression in these diseases are still being studied.
Currently, there are no specific drugs or approved therapies directly targeting ALAS1. However, research is ongoing to understand its regulation and explore potential therapeutic interventions for conditions associated with ALAS1 dysregulation.
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