Gene Symbol | ALAS2 |
Entrez Gene ID | 212 |
Full Name | 5'-aminolevulinate synthase 2 |
Synonyms | ALAS-E,ALASE,ANH1,ASB,SIDBA1,XLDPP,XLEPP,XLSA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Anemia, sideroblastic, 1, 300751 (3); Protoporphyria, erythropoietic, X-linked, 300752 (3) |