Testing Data
(Gel: 10%SDS-PAGE Lysates (from left to right): 293T and Jurkat cell Amount of lysate: 40ug per lane Primary antibody: 1/1000 dilution Secondary antibody dilution: 1/8000 Exposure time: 1 minute)
Rabbit anti-Human ALAS2 Polyclonal Antibody | anti-ALAS2 antibody
ALAS2 Antibody
Testing Data
(Gel: 10%SDS-PAGE Lysates (from left to right): 293T and Jurkat cell Amount of lysate: 40ug per lane Primary antibody: 1/1000 dilution Secondary antibody dilution: 1/8000 Exposure time: 1 minute)
Testing Data
(Gel: 10%SDS-PAGE Lysates (from left to right): 293T and Jurkat cell Amount of lysate: 40ug per lane Primary antibody: 1/1000 dilution Secondary antibody dilution: 1/8000 Exposure time: 1 minute)
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: 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: Anemia, Sideroblastic, X-linked; Protoporphyria, Erythropoietic, X-linked
Research Articles on ALAS2
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Product Notes
The ALAS2 alas2 (Catalog #AAA9410995) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The ALAS2 Antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's ALAS2 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Western blotting: 1:500-1:2000. Researchers should empirically determine the suitability of the ALAS2 alas2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "ALAS2, Polyclonal Antibody" 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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