Human aminolevulinate, delta-, synthase 2 ELISA Kit | ALAS2 elisa kit
Human 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: 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
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Product Notes
The Human ALAS2 alas2 (Catalog #AAA9340434) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9340434 ELISA Kit recognizes Human ALAS2. It is sometimes possible for the material contained within the vial of "aminolevulinate, delta-, synthase 2, 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
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