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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.
The ASAH1 gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it breaks down fats called ceramides into other fats that can be used by the body. Ceramides make up one subtype of a group of fats called sphingolipids.
Ceramides are also thought to play a role in the growth and death of cells, but this function likely takes place outside of the lysosome.
More than 15 mutations in the ASAH1 gene have been found to cause Farber lipogranulomatosis. Most of these mutations are caused by a change in a single protein building block (amino acid) in acid ceramidase, which prevents the enzyme from functioning normally.
A lack of functional acid ceramidase or a severe reduction in the enzyme's activity results in an accumulation of ceramides in the cells and tissues of the lung, liver, colon, muscles used for movement (skeletal muscles), cartilage, and bone. This buildup causes the signs and symptoms of Farber lipogranulomatosis, and the severity of the disease depends on the amount of ceramide accumulation.
Cytogenetic Location: 8p22
Molecular Location on chromosome 8: base pairs 17,913,924 to 17,942,506
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 17,913,924 to base pair 17,942,506 on chromosome 8.
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 ASAH1 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.
amino acid ; cartilage ; cell ; ceramides ; colon ; enzyme ; gene ; lipogranulomatosis ; lysosome ; 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.