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Reviewed July 2009
What is the official name of the ALAS2 gene?
The official name of this gene is “aminolevulinate, delta-, synthase 2.”
ALAS2 is the gene's official symbol. The ALAS2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the ALAS2 gene?
The ALAS2 gene provides instructions for making an enzyme called 5-aminolevulinate synthase 2 or erythroid ALA-synthase. ALAS2 is one of two genes that carry instructions for making versions of the ALA-synthase enzyme. The other ALA-synthase gene, ALAS1, is turned on (active) in cells throughout the body. However, the ALAS2 gene is active only in developing red blood cells called erythroblasts.
ALA-synthase plays an important role in the production of heme. Heme is a component of iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). Heme is vital for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver.
The production of heme is a multi-step process that requires eight different enzymes. ALA-synthase is responsible for the first step in this process, the formation of a compound called delta-aminolevulinic acid (ALA). In subsequent steps, seven other enzymes produce and modify compounds that ultimately lead to heme.
How are changes in the ALAS2 gene related to health conditions?
Where is the ALAS2 gene located?
Cytogenetic Location: Xp11.21
Molecular Location on the X chromosome: base pairs 55,035,487 to 55,057,496
The ALAS2 gene is located on the short (p) arm of the X chromosome at position 11.21.
More precisely, the ALAS2 gene is located from base pair 55,035,487 to base pair 55,057,496 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ALAS2?
You and your healthcare professional may find the following resources about ALAS2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the ALAS2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ALAS2?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.