Recombinant Human ALAS1 Protein, GST-tagged

• Cat.No.: ALAS1-429H
• Product Overview: Human ALAS1 partial ORF ( NP_000679, 1 a.a. - 98 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Description: This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
• Source: Wheat Germ
• Species: Human
• Tag: GST
• Molecular Mass: 36.52 kDa
• AA Sequence: MESVVRRCPFLSRVPQAFLQKAGKS LLFYAQNCPKMMEVGAKPAPRALST AAVHYQQIKETPPASEKDKTAKAKV QQTPDGSQQSPDGTQLPSGHPLP
• Applications: Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• 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_000688
• Protein Refseq: NP_000679
• MIM: 125290
• UniProt ID: P13196

Reviews

10/18/2022

The manufacturer's prompt and reliable technical support serves as an invaluable resource, reinforcing my confidence in the ALAS1 protein's effectiveness and enabling smooth progress in my experiments.

02/17/2021

I am eager to embark on this scientific journey, empowered by the high-quality ALAS1 protein and the manufacturer's unparalleled assistance.

01/11/2021

Their unwavering commitment to customer satisfaction assures me that any challenges or queries I may encounter will be expertly resolved.

02/16/2017

The combination of the protein's excellence and the manufacturer's exceptional technical support equips me with the necessary resources to overcome experimental obstacles and achieve groundbreaking results.

Q&As

Can ALAS1 levels be measured in clinical settings?

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.

What are the symptoms of ALAS1 deficiency?

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.

Are there any experimental treatments or clinical trials for ALAS1 deficiency?

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.

Is ALAS1 found in other tissues apart from the liver and bone marrow?

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.

Are there any known inhibitors or activators of ALAS1?

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.

How is ALAS1 expression regulated?

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.

Can ALAS1 deficiency improve over time?

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.

Is ALAS1 deficiency inherited?

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.

What are the symptoms of ALAS1 deficiency or dysregulation?

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.

Can ALAS1 deficiency be treated?

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.

Can ALAS1 deficiency be detected prenatally?

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.

How does ALAS1 deficiency lead to X-linked sideroblastic anemia?

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.

Can ALAS1 deficiency be prevented?

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.

Is ALAS1 deficiency a genetic disorder?

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.

How is ALAS1 deficiency diagnosed?

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.

How rare is ALAS1 deficiency?

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.

Can ALAS1 deficiency be prevented?

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.

Can ALAS1 be targeted for therapeutic interventions?

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.

Is there any relationship between ALAS1 and porphyrias?

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.

What are the long-term consequences of ALAS1 deficiency?

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.

How is ALAS1 deficiency diagnosed?

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.

Are there any ongoing research efforts for 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.

What are the treatment options for ALAS1 deficiency?

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.

Are there any diseases or conditions associated with ALAS1 overexpression?

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.

Are there any drugs or therapies targeting ALAS1?

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.