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Reviewed September 2010
What is the official name of the PPT1 gene?
The official name of this gene is “palmitoyl-protein thioesterase 1.”
PPT1 is the gene's official symbol. The PPT1 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 PPT1 gene?
The PPT1 gene provides instructions for making a protein called palmitoyl-protein thioesterase 1. This protein is found in structures called lysosomes, which are compartments within cells that break down and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats called long-chain fatty acids from other proteins so the fats can be broken down and used for energy.
Palmitoyl-protein thioesterase 1 is thought to be involved in a variety of cell functions. These functions include transporting materials from the cell surface into the cell (endocytosis), the movement of small sac-like structures called vesicles that transport certain substances within cells (vesicle trafficking), and the self-destruction of cells (apoptosis). Palmitoyl-protein thioesterase 1 is also thought to play a role in the functioning of synapses, which are the connections between nerve cells (neurons) where cell-to-cell communication occurs.
How are changes in the PPT1 gene related to health conditions?
Where is the PPT1 gene located?
Cytogenetic Location: 1p32
Molecular Location on chromosome 1: base pairs 40,538,381 to 40,563,141
The PPT1 gene is located on the short (p) arm of chromosome 1 at position 32.
More precisely, the PPT1 gene is located from base pair 40,538,381 to base pair 40,563,141 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PPT1?
You and your healthcare professional may find the following resources about PPT1 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 PPT1 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 PPT1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 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.