ALAS2

  • Official Full Name

    aminolevulinate, delta-, synthase 2

  • Overview

    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.
  • Synonyms

    ALAS2; aminolevulinate, delta-, synthase 2; aminolevulinate, delta , synthase 2 (sideroblastic/hypochromic anemia) , ASB; 5-aminolevulinate synthase, erythroid-specific, mitochondrial; sideroblastic/hypochromic anemia; 5-aminolevulinic acid synthase; ALAS E; ALASE; ANH1; Delta aminolevulinate synthase; FLJ93603; OTTMUSP00000020679; XLSA; 5 @aminolevulinate synthase erythroid specific; 5 aminolevulinic acid synthase 2; 5-aminolevulinate synthase 2; 5-aminolevulinate synthase; Alas 2; ALAS; ALAS, erythroid; Aminolevulinic acid synthase 2, erythroid; ASB; Delta ALA synthase 2; Delta ALA synthetase; Delta aminolevulinate synthase 2; Erythroid specific ALAS; OTTHUMP00000023388; OTTHUMP00000023389; RP23-338A17.1; XLDPP; OTTHUMP00000204081; delta-ALA synthase 2; delta-ALA synthetase; 5-aminolevulinic acid synthase 2; delta-aminolevulinate synthase 2; XLEPP; ALAS-E;

  • Recombinant Proteins
  • Cell & Tissue Lysates
  • Protein Pre-coupled Magnetic Beads
  • Human
  • Mouse
  • Rat
  • Zebrafish
  • E.coli
  • HEK293
  • In Vitro Cell Free System
  • Mammalian Cell
  • Wheat Germ
  • GST
  • His
  • His (Fc)
  • Avi
  • N/A
  • N
Species Cat.# Product name Source (Host) Tag Protein Length Price
Human ALAS2-27277TH Recombinant Human ALAS2, His-tagged E.coli His
Human ALAS2-430H Recombinant Human ALAS2 Protein, GST-tagged Wheat Germ GST
Human ALAS2-419H Recombinant Human Aminolevulinate, Delta-, Synthase 2, His-tagged E.coli His
Human ALAS2-431H Recombinant Human ALAS2 Protein, GST-tagged Wheat Germ GST
Human ALAS2-55HCL Recombinant Human ALAS2 cell lysate N/A
Human ALAS2-2505H Recombinant Human ALAS2 protein, His-tagged E.coli His 50-587aa
Human ALAS2-1391HF Recombinant Full Length Human ALAS2 Protein, GST-tagged In Vitro Cell Free System GST 587 amino acids
Human ALAS2-112H Recombinant Human ALAS2 Protein, His-tagged E.coli N-His Ala361-Ala587
Mouse Alas2-2506M Recombinant Mouse Alas2 protein, His-tagged E.coli His 50-587aa
Mouse Alas2-113M Recombinant Mouse Alas2 Protein, His-tagged E.coli N-His Ala361-Ala587
Rat ALAS2-611R Recombinant Rat ALAS2 Protein Mammalian Cell His
Rat ALAS2-267R-B Recombinant Rat ALAS2 Protein Pre-coupled Magnetic Beads HEK293
Rat ALAS2-267R Recombinant Rat ALAS2 Protein, His (Fc)-Avi-tagged HEK293 His (Fc)-Avi
Zebrafish ALAS2-9209Z Recombinant Zebrafish ALAS2 Mammalian Cell His
  • Involved Pathway
  • Protein Function
  • Interacting Protein

ALAS2 involved in several pathways and played different roles in them. We selected most pathways ALAS2 participated on our site, such as Glycine, serine and threonine metabolism, Porphyrin and chlorophyll metabolism, Metabolic pathways, which may be useful for your reference. Also, other proteins which involved in the same pathway with ALAS2 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

Pathway Name Pathway Related Protein
Glycine, serine and threonine metabolismAGXTB;MAOA;ALAS1;CBSB;PHGDH;GRHPR;PSAT1;AGXTA;THA1
Porphyrin and chlorophyll metabolismUGT2A2;UROD;UGT5G1;P22;PPOX;HMOX1;UGT2B7;UGT2B15;UGT2A1
Metabolic pathwaysATP5B;CES1C;KHK;PGAM1;GBGT1L4;CYP2P7;UQCRB;QDPRB2;TYR

ALAS2 has several biochemical functions, for example, 5-aminolevulinate synthase activity, coenzyme binding, glycine binding. Some of the functions are cooperated with other proteins, some of the functions could acted by ALAS2 itself. We selected most functions ALAS2 had, and list some proteins which have the same functions with ALAS2. You can find most of the proteins on our site.

Function Related Protein
5-aminolevulinate synthase activityALAS1;ALAS2
coenzyme bindingALAS2;NDUFA9A;WWOX;QDPRB1;ATAT1;GCH1;TDH;HMGCR;HMGCRA
glycine bindingSRR;GLRA4B;GRIN2B;GLRA4A;GLDC;GLRA1;GLRA2;SIX2A;GRIN1
protein bindingROR1;ASB3;NDRG1;SH3PXD2B;AQP1;CDKN1B;NISCH;ACTR6;BSX
pyridoxal phosphate bindingSGPL1;THNSL2;KYNU;SDS;SRR;MARC2;ACCSL;PYGB;DDC

ALAS2 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with ALAS2 here. Most of them are supplied by our site. Hope this information will be useful for your research of ALAS2.

BANP; GRB2

  • Q&As
  • Reviews

Q&As (12)

Ask a question
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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Reviews
05/10/2018

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

    03/29/2018

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

      10/14/2017

        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.

        01/26/2017

          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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