Recombinant human 5-aminolevulinate synthase, erythroid-specific, mitochondrial protein (aa50-320)
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. Applications: Suitable for use in ELISA, Western Blot, Immunohistochemistry. Other applications not tested. Recommended Dilution: Western Blot: 1:200-1000 Immunohistochemistry: 1:20-1:200 Optimal dilutions to be determined by the researcher. Storage and Stability: May be stored at 4C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20C. Aliquots are stable for 12 months after receipt. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.