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Reviewed August 2013
What is the official name of the TPP1 gene?
The official name of this gene is “tripeptidyl peptidase I.”
TPP1 is the gene's official symbol. The TPP1 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 TPP1 gene?
The TPP1 gene provides instructions for making an enzyme called tripeptidyl peptidase 1. This enzyme is produced as an inactive enzyme, called a proenzyme, which has an extra segment attached. This segment must be removed, followed by additional processing steps, for the enzyme to become active. The active tripeptidyl peptidase 1 enzyme is found in cell structures called lysosomes, which digest and recycle different types of molecules. This enzyme acts as a peptidase, which means that it breaks down protein fragments, known as peptides, into their individual building blocks (amino acids). Specifically, tripeptidyl peptidase 1 cuts (cleaves) peptides into groups of three amino acids.
How are changes in the TPP1 gene related to health conditions?
Genetics Home Reference provides information about juvenile Batten disease, which is also associated with changes in the TPP1 gene.
Where is the TPP1 gene located?
Cytogenetic Location: 11p15
Molecular Location on chromosome 11: base pairs 6,612,765 to 6,619,460
The TPP1 gene is located on the short (p) arm of chromosome 11 at position 15.
More precisely, the TPP1 gene is located from base pair 6,612,765 to base pair 6,619,460 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TPP1?
You and your healthcare professional may find the following resources about TPP1 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 TPP1 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 TPP1?
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.