Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q17816607> ?p ?o }
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- Q17816607 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.".
- Q17816607 entrezgene "212".
- Q17816607 wikiPageExternalLink br.fcgi?book=gene&part=sider-anemia.
- Q17816607 wikiPageWikiLink Q1129238.
- Q17816607 wikiPageWikiLink Q1673083.
- Q17816607 wikiPageWikiLink Q189621.
- Q17816607 wikiPageWikiLink Q2610084.
- Q17816607 wikiPageWikiLink Q286049.
- Q17816607 wikiPageWikiLink Q3408230.
- Q17816607 wikiPageWikiLink Q39572.
- Q17816607 wikiPageWikiLink Q609809.
- Q17816607 wikiPageWikiLink Q8054.
- Q17816607 type Biomolecule.
- Q17816607 type Protein.
- Q17816607 type Thing.
- Q17816607 type Q206229.
- Q17816607 type Q8054.
- Q17816607 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.".
- Q17816607 label "ALAS2".