Pigeon 5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial (ALAS2) ELISA Kit | ALAS2 elisa kit
Pigeon 5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial (ALAS2) ELISA Kit
NCBI and Uniprot Product Information
NCBI 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. [provided by RefSeq, Jul 2008]
Uniprot Description
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: Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; Amino Acid Metabolism - glycine, serine and threonine; EC 2.3.1.37; Mitochondrial; Transferase
Chromosomal Location of Human Ortholog: Xp11.21
Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion
Molecular Function: 5-aminolevulinate synthase activity; coenzyme binding; glycine binding; protein binding; pyridoxal phosphate binding
Biological Process: cellular iron ion homeostasis; erythrocyte differentiation; heme biosynthetic process; hemoglobin biosynthetic process; oxygen homeostasis; porphyrin metabolic process; protoporphyrinogen IX biosynthetic process; response to hypoxia
Disease: Anemia, Sideroblastic, X-linked; Protoporphyria, Erythropoietic, X-linked
Research Articles on ALAS2
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Product Notes
The Pigeon ALAS2 alas2 (Catalog #AAA9347367) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9347367 ELISA Kit recognizes Pigeon ALAS2. It is sometimes possible for the material contained within the vial of "5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial (ALAS2), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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