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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
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, or haem (pronounced / hi:m/ ), is a precursor to hemoglobin, which is necessary to bind oxygen in the bloodstream. Heme is biosynthesized in both the bone marrow and the liver.
In biochemical terms, heme is a coordination complex "consis ...
biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive
sideroblastic anemia.
Alternatively spliced
Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. In this process, particular exons of a gene may b ...
transcript variants encoding different
isoforms
A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences. While many perform the same or similar biological roles, some iso ...
have been identified.
Its gene contains an
IRE
Ire or IRE may refer to:
Ire
* Extreme anger; intense fury
* Irē, the Livonian name for Mazirbe, Latvia
* A town in Oye, Nigeria
* ''Ire'' (album), a 2015 album by the Australian metalcore band Parkway Drive
* Ire (Iliad), a town mentioned in ...
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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