| ncRNA Symbol: | ALAS1 |
| Full Name: | 5'-aminolevulinate synthase 1 |
| Category: | mRNA |
| Synonyms: | ALAS|ALAS-H|ALAS3|ALASH|MIG4 |
| Chromosome: | chr3 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 52198086 | End Site(bp): | 52214327 |
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| Gene Summary: | 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. [provided by RefSeq, Jan 2015] |
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