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Reviewed June 2009

What is the official name of the SOST gene?

The official name of this gene is “sclerostin.”

SOST is the gene's official symbol. The SOST gene is also known by other names, listed below.

What is the normal function of the SOST gene?

The SOST gene provides instructions for making the protein sclerostin. Sclerostin is produced in osteocytes, which are a type of bone cell. The main function of sclerostin is to stop (inhibit) bone formation. The maintenance of bone over time requires a balance between the formation of new bone tissue and the breakdown and removal (resorption) of old bone tissue. Inhibition of bone formation is necessary to ensure that bones are of the correct shape, size, and density. Research suggests that sclerostin exerts its effects by interfering with a process called Wnt signaling, which plays a key role in the regulation of bone formation. Sclerostin may also promote the self-destruction (apoptosis) of bone cells, further inhibiting bone growth.

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

SOST-related sclerosing bone dysplasia - caused by mutations in the SOST gene

At least six mutations in or near the SOST gene have been found to cause SOST-related sclerosing bone dysplasia. There are two forms of SOST-related sclerosing bone dysplasia: sclerosteosis and van Buchem disease. Sclerosteosis, the more severe type, is most common in the Afrikaner population of South Africa, while the milder van Buchem disease occurs most often in people of Dutch ancestry.

Most mutations that cause sclerosteosis result in a premature stop signal in the instructions for making sclerostin. These mutations prevent the production of any functional protein.

The most common mutation that causes van Buchem disease in people of Dutch ancestry is a deletion of 52,000 DNA building blocks (nucleotides) in a region of DNA neighboring the SOST gene. This region, called a regulatory region, normally controls the gene's activity (expression). This deletion within the regulatory region reduces the expression of the SOST gene, leading to a shortage of functional sclerostin protein.

A shortage or absence of sclerostin in bone cells disrupts the protein's inhibitory effect on bone growth, causing excessive bone formation. As a result, bones are denser and wider than usual, particularly the bones of the skull. These bone abnormalities are characteristic of SOST-related sclerosing bone dysplasia.

Where is the SOST gene located?

Cytogenetic Location: 17q11.2

Molecular Location on chromosome 17: base pairs 43,753,730 to 43,758,787

The SOST gene is located on the long (q) arm of chromosome 17 at position 11.2.


More precisely, the SOST gene is located from base pair 43,753,730 to base pair 43,758,787 on chromosome 17.


Where can I find additional information about SOST?

You and your healthcare professional may find the following resources about SOST helpful.


What other names do people use for the SOST gene or gene products?

  • sclerosteosis
  • sclerostin precursor
  • VBCH


What glossary definitions help with understanding SOST?

apoptosis ; bone formation ; cell ; deletion ; DNA ; dysplasia ; gene ; mutation ; osteoblast ; osteoclast ; population ; protein ; tissue



  • Balemans W, Van Hul W. Human genetics of SOST. J Musculoskelet Neuronal Interact. 2006 Oct-Dec;6(4):355-6. Review. (
  • NCBI Gene (
  • ten Dijke P, Krause C, de Gorter DJ, Löwik CW, van Bezooijen RL. Osteocyte-derived sclerostin inhibits bone formation: its role in bone morphogenetic protein and Wnt signaling. J Bone Joint Surg Am. 2008 Feb;90 Suppl 1:31-5. doi: 10.2106/JBJS.G.01183. Review. (
  • van Bezooijen RL, ten Dijke P, Papapoulos SE, Löwik CW. SOST/sclerostin, an osteocyte-derived negative regulator of bone formation. Cytokine Growth Factor Rev. 2005 Jun;16(3):319-27. Review. (



Reviewed: June 2009
Published: March 10, 2014