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The official name of this gene is “aminolevulinate, delta-, synthase 1.”
ALAS1 is the gene's official symbol. The ALAS1 gene is also known by other names, listed below.
The ALAS1 gene provides instructions for making an enzyme called delta-aminolevulinate synthase 1 or ALA-synthase. ALAS1 is one of two genes that carry instructions for making versions of the ALA-synthase enzyme. The other ALA-synthase gene, ALAS2, is turned on (active) only in developing red blood cells (erythroblasts). The ALAS1 gene is active in cells throughout the body.
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.
Cytogenetic Location: 3p21.1
Molecular Location on chromosome 3: base pairs 52,198,082 to 52,214,326
The ALAS1 gene is located on the short (p) arm of chromosome 3 at position 21.1.
More precisely, the ALAS1 gene is located from base pair 52,198,082 to base pair 52,214,326 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ALAS1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
Ala ; bone marrow ; compound ; enzyme ; gene ; heme ; hemoglobin ; iron ; oxygen ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.