ALAS2
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Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ALAS2 gene.[1][2][3] 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.[3]
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.
References
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Further reading
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External links
[edit | edit source]- Human ALAS2 genome location and ALAS2 gene details page in the UCSC Genome Browser.
- GeneReviews/NCBI/NIH/UW entry on X-Linked Sideroblastic Anemia and Ataxia
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
