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Reviewed December 2013
What is the official name of the ASAH1 gene?
The official name of this gene is “N-acylsphingosine amidohydrolase (acid ceramidase) 1.”
ASAH1 is the gene's official symbol. The ASAH1 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 ASAH1 gene?
The ASAH1 gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides. Ceramides are typically found within the membranes that surround cells and play a role in regulating cell maturation (differentiation), growth and division of cells (proliferation), and controlled cell death (apoptosis). Additionally, ceramides are a component of a fatty substance called myelin that insulates and protects nerve cells. When ceramides need to be replaced, they travel to lysosomes where acid ceramidase breaks them down into a fat called sphingosine and a fatty acid. These two breakdown products are recycled to create new ceramides for the body to use.
How are changes in the ASAH1 gene related to health conditions?
Where is the ASAH1 gene located?
Cytogenetic Location: 8p22
Molecular Location on chromosome 8: base pairs 18,056,415 to 18,084,997
The ASAH1 gene is located on the short (p) arm of chromosome 8 at position 22.
More precisely, the ASAH1 gene is located from base pair 18,056,415 to base pair 18,084,997 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ASAH1?
You and your healthcare professional may find the following resources about ASAH1 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 ASAH1 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 ASAH1?
acids ; amino acid ; apoptosis ; atrophy ; breakdown ; cartilage ; cell ; ceramides ; differentiation ; enzyme ; epilepsy ; fatty acids ; gene ; joint ; lipogranulomatosis ; proliferation ; protein ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.