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aminolevulinate, delta-, synthase 2, ELISA Kit

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产品名称: aminolevulinate, delta-, synthase 2, ELISA Kit
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简单介绍

aminolevulinate, delta-, synthase 2, ELISA Kit


aminolevulinate, delta-, synthase 2, ELISA Kit  的详细介绍
Product Name

aminolevulinate, delta-, synthase 2 (ALAS2), ELISA Kit

Full Product Name

Human 5-aminolevulinate synthase, erythroid-specific, mitochondrial, ALAS2 ELISA Kit

Product Synonym Names
Human 5-aminolevulinate synthase; erythroid-specific; mitochondrial (ALAS2) ELISA kit; RP5-884M20.1; ALAS-E; ALASE; ANH1; ASB; FLJ93603; XLSA; 5-aminolevulinate synthase 2; 5-aminolevulinate synthase; erythroid-specific; mitochondrial; 5-aminolevulinic acid synthase; delta-ALA synthetase; aminolevulinate; delta-; synthase 2
Product Gene Name

ALAS2 elisa kit

[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
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Request for Current Manual Insert
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OMIM
301300
3D Structure
ModBase 3D Structure for P22557
Species Reactivity
Human
Preparation and Storage
Store all reagents at 2-8 degree C
Product Note
Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.
Other Notes
Small volumes of ALAS2 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Searchable Terms for ALAS2 purchase
MBS9340434 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the aminolevulinate, delta-, synthase 2 (ALAS2) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing ALAS2. The ELISA analytical biochemical technique of the MBS9340434 kit is based on ALAS2 antibody-ALAS2 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect ALAS2 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, ALAS2. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).
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NCBI/Uniprot data below describe general gene information for ALAS2. It may not necessarily be applicable to this product.
NCBI GI #
83977442
NCBI GeneID
212
NCBI Accession #
NP_000023.2 [Other Products]
NCBI GenBank Nucleotide #
NM_000032.4 [Other Products]
UniProt Primary Accession #
P22557 [Other Products]
UniProt Secondary Accession #
Q13735; Q5JZF5; Q8N6H3; A8K3F0; A8K6C4[Other Products]
UniProt Related Accession #
P22557[Other Products]
Molecular Weight
64,633 Da
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NCBI Official Full Name
5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform a
NCBI Official Synonym Full Names
aminolevulinate, delta-, synthase 2
NCBI Official Symbol
ALAS2  [Similar Products]
NCBI Official Synonym Symbols
ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E
  [Similar Products]
NCBI Protein Information
5-aminolevulinate synthase, erythroid-specific, mitochondrial; delta-ALA synthase 2; delta-ALA synthetase; 5-aminolevulinic acid synthase 2; delta-aminolevulinate synthase 2
UniProt Protein Name
5-aminolevulinate synthase, erythroid-specific, mitochondrial
UniProt Synonym Protein Names
5-aminolevulinic acid synthase 2; Delta-ALA synthase 2; Delta-aminolevulinate synthase 2
Protein Family
Alanine--tRNA ligase
UniProt Gene Name
ALAS2  [Similar Products]
UniProt Synonym Gene Names
ALASE; ASB; ALAS-E  [Similar Products]
UniProt Entry Name
HEM0_HUMAN
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NCBI Summary for ALAS2
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. [provided by RefSeq, Jul 2008]
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UniProt Comments for ALAS2
ALAS2: Defects in ALAS2 are a cause of anemia sideroblastic X- linked (XLSA). Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. XLSA shows a variable hematologic response to pharmacologic doses of pyridoxine. Defects in ALAS2 are the cause of erythropoietic protoporphyria X-linked dominant (XLDPT). Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is a form of porphyria characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041). Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Transferase; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Mitochondrial; EC 2.3.1.37; Amino Acid Metabolism - glycine, serine and threonine

Chromosomal Location of Human Ortholog: Xp11.21

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane

Molecular Function: protein binding; 5-aminolevulinate synthase activity; glycine binding; coenzyme binding; pyridoxal phosphate binding

Biological Process: hemoglobin biosynthetic process; oxygen homeostasis; cellular iron ion homeostasis; porphyrin metabolic process; response to hypoxia; erythrocyte differentiation; protoporphyrinogen IX biosynthetic process; heme biosynthetic process

Disease: Protoporphyria, Erythropoietic, X-linked; Anemia, Sideroblastic, X-linked
Research Articles on ALAS2
1. the 130-base pair enhancer region located in the first intron of the ALAS2 gene should be examined in patients with congenital sideroblastic anemia in whom the gene responsible is unknown.
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Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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