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TYROBP

TYROBP

Reviewed November 2008

What is the official name of the TYROBP gene?

The official name of this gene is “TYRO protein tyrosine kinase binding protein.”

TYROBP is the gene's official symbol. The TYROBP 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 TYROBP gene?

The TYROBP gene (also known as the DAP12 gene) provides instructions for making a protein called the TYRO protein tyrosine kinase binding protein. This protein is found in a variety of cells produced in bone marrow (myeloid cells) and other immune system cells (lymphoid cells). The protein is located on the cell surface, where it helps transmit chemical signals that activate the cell.

The TYROBP protein interacts with several other proteins on the surface of cells. For example, it forms a complex with the protein produced from the TREM2 gene. The TYROBP protein and its partners were first identified in the immune system, where they activate certain cells (such as natural killer cells and dendritic cells) that trigger an inflammatory response to injury or disease.

The TYROBP-TREM2 complex also activates cells in the skeletal system and in the brain and spinal cord (central nervous system). In the skeletal system, the complex is found in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. In the central nervous system, the complex appears to play an important role in immune cells called microglia. These cells protect the brain and spinal cord from foreign invaders and remove dead nerve cells and other debris. Although the TYROBP-TREM2 complex plays a critical role in osteoclasts and microglia, its exact function in these cells is unclear.

How are changes in the TYROBP gene related to health conditions?

polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - caused by mutations in the TYROBP gene

At least six mutations in the TYROBP gene have been identified in people with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (commonly known as PLOSL). One TYROBP mutation has been found to cause PLOSL in all affected people of Finnish ancestry. This mutation deletes a significant portion of the TYROBP gene, which prevents the cell from producing any protein from this gene. Mutations in other populations result in the production of an abnormally short, nonfunctional version of the protein or prevent the protein from reaching the cell surface.

Researchers believe that the signs and symptoms of PLOSL are related to defective TYROBP-TREM2 signaling in osteoclasts and microglia. The bone abnormalities seen with this disorder are probably related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, defective signaling through the TYROBP-TREM2 complex causes widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the neurological problems associated with PLOSL.

Where is the TYROBP gene located?

Cytogenetic Location: 19q13.1

Molecular Location on chromosome 19: base pairs 35,904,400 to 35,908,514

The TYROBP gene is located on the long (q) arm of chromosome 19 at position 13.1.

The TYROBP gene is located on the long (q) arm of chromosome 19 at position 13.1.

More precisely, the TYROBP gene is located from base pair 35,904,400 to base pair 35,908,514 on chromosome 19.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TYROBP?

You and your healthcare professional may find the following resources about TYROBP 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 TYROBP gene or gene products?

  • DAP12
  • DNAX-activation protein 12
  • KARAP
  • KAR-associated protein
  • killer activating receptor associated protein
  • TYOBP_HUMAN

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 TYROBP?

References (12 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.

 
Reviewed: November 2008
Published: December 22, 2014