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sideroblastic anemia 1
Summary
- Synonym
-
- X-linked sideroblastic anaemia
- X-linked sideroblastic anemia
- XLSA
- sideroblastic anaemia 1
- Definition
- A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.
- Super Class
- X-linked recessive disease sideroblastic anemia
External Links
- Disease Ontology
- DOID:0060063
- Mondo Disease Ontology
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2R7 | Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial |
