ALAS2 Antibody (monoclonal) (M02)
Mouse monoclonal antibody raised against a partial recombinant ALAS2.
|Application ||WB, E|
|Calculated MW||64633 Da|
|Other Names||5-aminolevulinate synthase, erythroid-specific, mitochondrial, ALAS-E, 5-aminolevulinic acid synthase 2, Delta-ALA synthase 2, Delta-aminolevulinate synthase 2, ALAS2, ALASE, ASB|
|Target/Specificity||ALAS2 (NP_000023, 1 a.a. ~ 100 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||ALAS2 Antibody (monoclonal) (M02) is for research use only and not for use in diagnostic or therapeutic procedures.|
Provided below are standard protocols that you may find useful for product applications.
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.
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Bergmann AK, et al. Pediatr Blood Cancer, 2010 Feb. PMID 19731322.Hypoxia induces erythroid-specific 5-aminolevulinate synthase expression in human erythroid cells through transforming growth factor-beta signaling. Kaneko K, et al. FEBS J, 2009 Mar. PMID 19187226.Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G. Sussman NL, et al. Acta Haematol, 2008. PMID 19066423.C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Whatley SD, et al. Am J Hum Genet, 2008 Sep. PMID 18760763.Lack of association of delta-aminolevulinate dehydratase polymorphisms with blood lead levels and hemoglobin in Romanian women from a lead-contaminated region. Rabstein S, et al. J Toxicol Environ Health A, 2008. PMID 18569569.