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- ALAS2 abstract "Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ALAS2 gene. ALAS2 is an aminolevulinic acid synthase.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.Its gene contains an IRE in its 5'-UTR region on which an IRP binds if the iron level is too low, thus inhibiting its translation.".
- ALAS2 entrezgene "212".
- ALAS2 wikiPageExternalLink br.fcgi?book=gene&part=sider-anemia.
- ALAS2 wikiPageID "20548353".
- ALAS2 wikiPageRevisionID "592056057".
- ALAS2 hasPhotoCollection ALAS2.
- ALAS2 type Biomolecule.
- ALAS2 type Protein.
- ALAS2 type ProteinMolecule.
- ALAS2 type BiologicalObject.
- ALAS2 comment "Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ALAS2 gene. ALAS2 is an aminolevulinic acid synthase.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.".
- ALAS2 label "ALAS2".
- ALAS2 sameAs m.0520v56.
- ALAS2 sameAs Q4652245.
- ALAS2 sameAs Q4652245.
- ALAS2 wasDerivedFrom ALAS2?oldid=592056057.
- ALAS2 isPrimaryTopicOf ALAS2.