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Reviewed September 2008
What is the official name of the HEXA gene?
The official name of this gene is “hexosaminidase A (alpha polypeptide).”
HEXA is the gene's official symbol. The HEXA 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 HEXA gene?
The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. One alpha subunit joins with one beta subunit (produced from the HEXB gene) to form a functioning enzyme.
Beta-hexosaminidase A plays a critical role in the brain and spinal cord (central nervous system). This enzyme is found in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A forms part of a complex that breaks down a fatty substance called GM2 ganglioside.
How are changes in the HEXA gene related to health conditions?
Where is the HEXA gene located?
Cytogenetic Location: 15q24.1
Molecular Location on chromosome 15: base pairs 72,343,436 to 72,376,178
The HEXA gene is located on the long (q) arm of chromosome 15 at position 24.1.
More precisely, the HEXA gene is located from base pair 72,343,436 to base pair 72,376,178 on chromosome 15.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HEXA?
You and your healthcare professional may find the following resources about HEXA 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 HEXA 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 HEXA?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.