Delta-aminolevulinate synthase 2 also known as ALAS2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
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
Heme (American English), or haem (Commonwealth English, both pronounced /Help:IPA/English, hi:m/ ), is a ring-shaped iron-containing molecule that commonly serves as a Ligand (biochemistry), ligand of various proteins, more notably as a Prostheti ...
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.
References
Further reading
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External links
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GeneReviews/NCBI/NIH/UW entry on X-Linked Sideroblastic Anemia and Ataxia
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