This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms.

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Flow cytometric analysis of ALAS1 expression in HAP-1 cells using ALAS1 antibody . Green, isotype control; red, ALAS1.

Immunocytochemical staining of HAP-1 cells with ALAS1 antibody . Nuclei were stained blue with DAPI; ALAS1 was stained magenta with Alexa Fluor® 647. Images were taken using Leica stellaris 5. Protein abundance based on laser Intensity and smart gain: Medium. Scale bar, 20 μm.

Western blotting analysis using ALAS1 antibody . Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with ALAS1 antibody and HRP-conjugated goat anti-rabbit secondary antibody respectively. Image was developed using FeQ™ ECL Substrate Kit .

Western blotting analysis using ALAS1 antibody . ALAS1 expression in wild type (WT) and ALAS1 shRNA knockdown (KD) HeLa cells with 30 μg of total cell lysates. β-Tubulin serves as a loading control. The blot was incubated with ALAS1 antibody and HRP-conjugated goat anti-rabbit secondary antibody respectively. Image was developed using FeQ™ ECL Substrate Kit .

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