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Reviewed August 2010
What is the official name of the SH2D1A gene?
The official name of this gene is “SH2 domain containing 1A.”
SH2D1A is the gene's official symbol. The SH2D1A 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 SH2D1A gene?
The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). SAP interacts with other proteins called SLAM family receptors to activate signaling pathways that are involved in the control of immune cells (lymphocytes). In particular, it helps regulate lymphocytes that destroy other cells (cytotoxic lymphocytes) and is necessary for the development of specialized lymphocytes called natural killer T cells. SAP also helps control immune reactions by triggering self-destruction (apoptosis) of lymphocytes when they are no longer needed.
Does the SH2D1A gene share characteristics with other genes?
The SH2D1A gene belongs to a family of genes called SH2 domain containing (SH2 domain containing).
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 SH2D1A gene related to health conditions?
Where is the SH2D1A gene located?
Cytogenetic Location: Xq25
Molecular Location on the X chromosome: base pairs 123,480,131 to 123,507,009
The SH2D1A gene is located on the long (q) arm of the X chromosome at position 25.
More precisely, the SH2D1A gene is located from base pair 123,480,131 to base pair 123,507,009 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SH2D1A?
You and your healthcare professional may find the following resources about SH2D1A 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 SH2D1A 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 SH2D1A?
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.