| Name | ALAS2 |
|---|---|
| Synonyms | 5 aminoevulinate synthase 2; ASB; Delta ALA synthetase; Delta aminolevulinate synthase; 5 aminolevulinate synthase 2; 5 aminolevulinic acid synthase; 5 aminolevulinic acid synthase erythroid specific mitochondrial; ALAS erythroid… |
| Name | sulfur |
|---|---|
| CAS | sulfur |
| PubMed | Abstract | RScore(About this table) | |
|---|---|---|---|
| 19786205 | Camaschella C: Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. Semin Hematol. 2009 Oct;46(4):371-7. The most common X-linked sideroblastic anemia (XLSA), due to mutations of the first enzyme of the heme synthetic pathway, synthase 2 (ALAS2), has linked heme deficiency to mitochondrial iron accumulation. The identification of other genes, such as (ATP) binding cassette B7 (ABCB7) and glutaredoxin 5 (GLRX5), has strengthened the role of iron sulfur cluster biogenesis in sideroblast formation and revealed a complex interplay between pathways of mitochondrial iron utilization and cytosolic iron sensing by the iron-regulatory proteins (IRPs). |
1(0,0,0,1) | Details |
| 19907149 | Sheftel AD, Richardson DR, Prchal J, Ponka P: Mitochondrial iron metabolism and sideroblastic anemia. . Acta Haematol. 2009;122(2-3):120-33. Epub 2009 Nov 10. Ring sideroblasts can develop as a result of a heme synthesis defect in erythroblasts (ALAS2 mutations), a defect in iron-sulfur cluster assembly, iron-sulfur protein precursor release from mitochondria (ABCB7 mutations), or by a defect in intracellular iron metabolism in erythroid cells (e.g. |
32(0,1,1,2) | Details |