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Reviewed December 2007
What is the official name of the SBDS gene?
The official name of this gene is “Shwachman-Bodian-Diamond syndrome.”
SBDS is the gene's official symbol. The SBDS 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 SBDS gene?
The SBDS gene provides instructions for making a protein whose function is unknown. Because mutations in this gene cause health problems affecting many body systems, researchers believe that the SBDS protein has an essential function in cells throughout the body.
Studies suggest that the SBDS protein may play a role in processing RNA, a molecule that is a chemical cousin of DNA. This protein may also be involved in building ribosomes, which are cellular structures that use the instructions encoded by RNA to create proteins. More research is needed to clarify the protein's role in these processes.
How are changes in the SBDS gene related to health conditions?
Where is the SBDS gene located?
Cytogenetic Location: 7q11.21
Molecular Location on chromosome 7: base pairs 66,452,689 to 66,460,587
The SBDS gene is located on the long (q) arm of chromosome 7 at position 11.21.
More precisely, the SBDS gene is located from base pair 66,452,689 to base pair 66,460,587 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SBDS?
You and your healthcare professional may find the following resources about SBDS 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 SBDS 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 SBDS?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.