5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial (ALAS2), ELISA Ki

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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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.

MBS9351612 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the 5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial (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 MBS9351612 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(%).

63,487 Da

5'-aminolevulinate synthase 2

5-aminolevulinate synthase, erythroid-specific, mitochondrial

5-aminolevulinate synthase, erythroid-specific, mitochondrial

ALASE; ASB; ALAS-E  [Similar Products]

HEM0_HUMAN

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]

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

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