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ALAS1 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. Multiple alternatively spliced variants, encoding the same protein, have been identified.
Gene Name: | aminolevulinate, delta-, synthase 1 |
Synonyms: | ALAS1, ALAS, ALAS-H, ALAS3, ALASH, Delta-ALA synthase 1, MIG4, Migration-inducing protein 4 |
Target Sequences: | NM_000688 NP_000679.1 P13196 |
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