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Reviewed January 2011
What is the official name of the UNC13D gene?
The official name of this gene is “unc-13 homolog D (C. elegans).”
UNC13D is the gene's official symbol. The UNC13D 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 UNC13D gene?
The UNC13D gene provides instructions for making a protein that is involved in the process of cell destruction (cytolysis) and the regulation of the immune system.
The UNC13D protein is involved in the release of substances from cells (exocytosis). In particular, it is important for the exocytosis of structures called cytolytic granules from immune cells called T cells and NK cells. T cells and NK cells destroy other cells by secreting these cytolytic granules, which contain cell-killing proteins, onto the membranes of the target cells. The UNC13D protein helps transport these granules to the membrane of the target cell, allowing cytolytic proteins to enter the cell and trigger it to self-destruct.
This cytolytic mechanism also helps regulate the immune system by destroying unneeded T cells. Controlling the number of T cells prevents the overproduction of immune proteins called cytokines that lead to inflammation and which, in excess, cause tissue damage.
How are changes in the UNC13D gene related to health conditions?
Where is the UNC13D gene located?
Cytogenetic Location: 17q25.1
Molecular Location on chromosome 17: base pairs 75,827,225 to 75,844,717
The UNC13D gene is located on the long (q) arm of chromosome 17 at position 25.1.
More precisely, the UNC13D gene is located from base pair 75,827,225 to base pair 75,844,717 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about UNC13D?
You and your healthcare professional may find the following resources about UNC13D 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 UNC13D 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 UNC13D?
arthritis ; autoimmune ; cell ; complication ; DNA ; familial ; fever ; gene ; idiopathic ; immune response ; immune system ; inflammation ; joint ; joint inflammation ; juvenile ; macrophage ; NK cells ; polymorphism ; protein ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.