Recombinant Human ALAS2, His-tagged

Cat.No. : ALAS2-27277TH
Product Overview : Recombinant fragment corresponding to amino acids 136-553 of Human ALAS2 with N terminal His tag, 46 kDa.
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Description : The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified.
Conjugation : HIS
Source : E. coli
Form : Liquid
Purity : >90% by SDS-PAGE
Storage buffer : Preservative: NoneConstituents: 20% Glycerol, 0.05% Tween 20, 3mM DTT, 25mM Tris HCl, 100mM Sodium chloride, 20 μM pyridoxal 5 phosphate monohydrate pH 8.0
Storage : Aliquot and store at -80°C. Avoid repeated freeze / thaw cycles.
Gene Name : ALAS2 aminolevulinate, delta-, synthase 2 [ Homo sapiens ]
Official Symbol : ALAS2
Synonyms : ALAS2; aminolevulinate, delta-, synthase 2; aminolevulinate, delta , synthase 2 (sideroblastic/hypochromic anemia) , ASB; 5-aminolevulinate synthase, erythroid-specific, mitochondrial; sideroblastic/hypochromic anemia;
Gene ID : 212
mRNA Refseq : NM_000032
Protein Refseq : NP_000023
MIM : 301300
Uniprot ID : P22557
Chromosome Location : Xp11.21
Pathway : 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; 5-aminolevulinate synthase activity; coenzyme binding; glycine binding; protein 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 (12)

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Are there any known risk factors for ALAS2 deficiency? 10/01/2022

The main risk factor for ALAS2 deficiency is having a family history of the condition. Since it is inherited in an X-linked recessive pattern, males with a family history of ALAS2 deficiency are at a higher risk of being affected. Females with a family history may be carriers of the mutation and have a lower risk of symptoms.

Are there any ongoing research or clinical trials related to ALAS2 deficiency? 08/25/2022

Yes, there is ongoing research and clinical trials related to ALAS2 deficiency. These studies aim to better understand the underlying mechanisms of the condition and develop potential therapeutic strategies. Some areas of focus include gene therapy, targeted drug therapies, and exploring the role of iron metabolism in the disease.

How is ALAS2 deficiency inherited? 08/15/2020

ALAS2 deficiency is inherited in an X-linked recessive pattern. This means that the mutation in the ALAS2 gene is located on the X chromosome. Males who inherit one mutated copy of the gene will develop the condition, while females would usually need to inherit two mutated copies (one from each parent) to be affected. Female carriers of the mutation may have mild symptoms or may be asymptomatic.

Can ALAS2 deficiency be cured? 10/29/2019

Currently, there is no known cure for ALAS2 deficiency. Treatment options mainly focus on managing the symptoms and complications associated with the condition. However, with advancing research and the development of potential therapies, there is optimism for future treatment options that may lead to a cure or significant improvement in the management of ALAS2 deficiency.

What are the symptoms of ALAS2 deficiency? 09/20/2018

Symptoms of ALAS2 deficiency can vary widely, ranging from mild to severe. They may include anemia, fatigue, pale skin, enlarged spleen, liver abnormalities, and problems with iron metabolism. Some individuals may also experience neurologic abnormalities, such as developmental delay or intellectual disability.

Can ALAS2 deficiency be prevented? 07/30/2018

ALAS2 deficiency is a genetic disorder, and currently, there are no known methods for preventing it from occurring. However, genetic counseling and prenatal testing may be available for families with a known history of ALAS2 deficiency, allowing them to make informed decisions regarding reproductive choices.

How is ALAS2 deficiency treated? 07/23/2018

reatment for ALAS2 deficiency is primarily focused on managing the symptoms and complications. This often involves regular blood transfusions to provide red blood cells and reduce anemia. Chelation therapy may be recommended to manage iron overload resulting from transfusions. In some cases, bone marrow transplantation or stem cell transplantation may be considered as a potential curative therapy. It is important for individuals with ALAS2 deficiency to receive regular medical monitoring and follow-up to assess their response to treatment and manage their overall health.

How is ALAS2 deficiency diagnosed? 05/23/2018

ALAS2 deficiency can be diagnosed through genetic testing to identify mutations in the ALAS2 gene. Additionally, blood tests can be conducted to measure heme synthesis and iron levels in the body. Bone marrow examination may also be performed to assess the morphology and iron content of the red blood cell precursors.

Is there any treatment available for ALAS2 deficiency? 04/28/2018

Currently, there is no specific curative treatment for ALAS2 deficiency. Management typically involves supportive care, including blood transfusions to alleviate anemia and iron chelation therapy to reduce iron overload. In some cases, bone marrow transplant or gene therapy may be considered as potential treatment options. Genetic counseling is also recommended for families affected by ALAS2 deficiency to understand the risks of inheritance and explore reproductive options.

What are the symptoms of ALAS2 deficiency? 04/25/2018

The symptoms of ALAS2 deficiency can vary widely depending on the severity of the condition. The most common symptom is anemia, which can range from mild to severe. Other symptoms may include fatigue, weakness, shortness of breath, pale skin, jaundice, enlarged spleen, and a predisposition to developing gallstones. In some cases, individuals may also experience growth delays, delayed puberty, and skeletal abnormalities.

How common is ALAS2 deficiency? 01/31/2018

ALAS2 deficiency is a rare disorder, with an estimated prevalence of fewer than 1 in 100,000 individuals. It primarily affects males due to its X-linked inheritance pattern, although females can also be affected as carriers of the mutation. The exact prevalence is unknown, and the condition is more commonly reported in individuals of Mediterranean, African, and Southeast Asian descent.

Can individuals with ALAS2 deficiency lead a normal life? 09/12/2017

The severity of ALAS2 deficiency can vary, and individuals with milder forms of the condition may be able to lead relatively normal lives with appropriate medical management and support. However, those with more severe forms may experience significant health challenges and require ongoing medical care. It is crucial for individuals with ALAS2 deficiency to work closely with healthcare professionals to develop an individualized treatment plan and address any complications or symptoms that arise.

Customer Reviews (4)

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    the manufacturer's commitment to providing excellent technical support adds an additional layer of confidence to my choice of the ALAS2 protein.


      Its remarkable purity and functional attributes make it an optimal choice for my research, ensuring accurate and reliable outcomes.


        By relying on the ALAS2 protein, I can approach my research with unwavering confidence in its quality and the unparalleled support extended by its manufacturer.


          I am confident that the ALAS2 protein will unravel crucial insights into molecular mechanisms, greatly enhancing the significance and impact of my scientific investigations.

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