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SBDS gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SBDS gene

The SBDS gene provides instructions for making a protein essential for ribosome maturation and cellular health, with mutations linked to Shwachman-Diamond syndrome.

Normal Function

The SBDS gene provides instructions for making a protein that is critical for building ribosomes. Ribosomes are cellular structures that process the cell's genetic instructions to create proteins. Each ribosome is made up of two parts (subunits) called the large subunit and the small subunit. The SBDS protein helps prepare the large subunit so it can assemble into the ribosome by helping remove another protein (called eIF6) that blocks the interaction of the large subunit with the small subunit.

Research suggests that the SBDS protein may be involved in other cellular processes, such as ensuring proper cell division, aiding cell movement, protecting cells from stress, and processing RNA, a molecule that is a chemical cousin of DNA.

Health Conditions Related to Genetic Changes

Shwachman-Diamond syndrome

More than 80 mutations in the SBDS gene have been identified in people with Shwachman-Diamond syndrome. This condition causes problems related to impaired function of the bone marrow and pancreas. Affected individuals also have skeletal abnormalities and a higher-than-average chance of developing a blood cell cancer called acute myeloid leukemia or a related bone marrow disorder called myelodysplastic syndrome.

Many of the SBDS gene mutations involved in Shwachman-Diamond syndrome result from an exchange of genetic material between the SBDS gene and a very similar, but nonfunctional, piece of DNA called a pseudogene. 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 features of Shwachman-Diamond syndrome result when mutations reduce the amount or impair the function of the SBDS protein. Researchers suspect a shortage of SBDS protein impairs ribosome formation, which may reduce the production of other proteins and alter developmental processes.

Other Names for This Gene

  • CGI-97
  • FLJ10917
  • SBDS ribosome assembly guanine nucleotide exchange factor
  • SBDS, ribosome assembly guanine nucleotide exchange factor
  • SBDS_HUMAN
  • Sdol1
  • SDS
  • Shwachman-Bodian-Diamond syndrome
  • SWDS
  • YLR022c

Frequently Asked Questions

Key findings include neutropenia or pancytopenia on a complete blood count, low serum pancreatic enzymes (amylase, lipase) with fat malabsorption, and elevated stool fat. Imaging may show a small or fatty pancreas. When these hematologic and pancreatic signs coexist, especially in a child with growth failure, SBDS sequencing is recommended.
HSCT is the definitive therapy for severe or progressive marrow failure and can prevent leukemic transformation. Success rates have improved with reduced‑intensity conditioning, but risks include graft‑versus‑host disease, infections, and organ toxicity. A matched sibling donor offers the best outcome; unrelated or haploidentical donors are alternatives when a sibling is unavailable.
SBDS deficiency impairs ribosome maturation, reducing protein synthesis in pancreatic exocrine cells, which leads to enzyme deficiency and malabsorption. Enzyme replacement therapy (pancrelipase) with meals improves nutrient absorption. A diet rich in medium‑chain triglycerides, low in simple sugars, and supplemented with fat‑soluble vitamins (A, D, E, K) is essential.
pproximately 10‑20 % of patients develop AML or MDS, most often before age 20. Surveillance includes a complete blood count every 3–6 months, bone‑marrow evaluation if cytopenias worsen, and annual flow cytometry for clonal markers. Early referral to a hematology‑oncology specialist is advised when abnormal trends appear.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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