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Reviewed September 2010
What is the official name of the TCIRG1 gene?
The official name of this gene is “T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3.”
TCIRG1 is the gene's official symbol. The TCIRG1 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 TCIRG1 gene?
The TCIRG1 gene provides instructions for making one part, the a3 subunit, of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) across membranes. This movement of protons helps regulate the relative acidity (pH) of cells and their surrounding environment. Tight control of pH is necessary for most biological reactions to proceed properly.
The V-ATPases containing the a3 subunit play an essential role in specialized cells called osteoclasts. These cells break down bone tissue as part of the normal process of bone remodeling, in which old bone is removed and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy.
On the surface of osteoclasts, V-ATPases are embedded in a specialized, highly folded membrane called the ruffled border. The ruffled border faces the surface of bone, where it helps form a tightly sealed compartment between the osteoclast and the bone surface. V-ATPases pump protons into the compartment, making it very acidic. This acidic environment is necessary to break down bone.
Does the TCIRG1 gene share characteristics with other genes?
The TCIRG1 gene belongs to a family of genes called ATP (ATPase superfamily).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the TCIRG1 gene related to health conditions?
Where is the TCIRG1 gene located?
Cytogenetic Location: 11q13.2
Molecular Location on chromosome 11: base pairs 67,806,461 to 67,818,365
The TCIRG1 gene is located on the long (q) arm of chromosome 11 at position 13.2.
More precisely, the TCIRG1 gene is located from base pair 67,806,461 to base pair 67,818,365 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TCIRG1?
You and your healthcare professional may find the following resources about TCIRG1 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 TCIRG1 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 TCIRG1?
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.