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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.
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.
At least 20 mutations in the SBDS gene have been identified in people with Shwachman-Diamond syndrome. Most of these mutations result from an exchange of genetic material between the SBDS gene and a very similar, but nonfunctional, piece of DNA called a pseudogene, which is located very close to the SBDS gene on chromosome 7. This type of DNA exchange is called a gene conversion. The genetic material from the pseudogene contains errors that, when introduced into the SBDS gene, disrupt the way the gene's instructions are used to make a protein.
The two most common mutations in people with Shwachman-Diamond syndrome result from exchanges between the SBDS gene and the nearby pseudogene. One of these mutations, written as 258+2T>C, changes a single DNA building block (nucleotide) in a region of the gene known as intron 2. This mutation, which is called a splice-site mutation, prevents the production of any functional SBDS protein. The other common mutation, written as 183-184TA>CT, changes two nucleotides in the SBDS gene. This genetic change introduces a premature stop signal in the instructions for making the SBDS protein. It is unclear whether this mutation results in an abnormally shortened protein or prevents any protein from being made.
The features of Shwachman-Diamond syndrome result when mutations impair the normal function of the SBDS protein. Because the protein's function is unknown, researchers have not determined how these mutations underlie the bone marrow abnormalities, increased cancer risk, and other signs and symptoms of this condition.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
bone marrow ; cancer ; chromosome ; DNA ; gene ; gene conversion ; intron ; molecule ; mutation ; nucleolus ; nucleotide ; protein ; pseudogene ; ribosomes ; RNA ; splice-site mutation ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.