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SMS

SMS

Reviewed August 2013

What is the official name of the SMS gene?

The official name of this gene is “spermine synthase.”

SMS is the gene's official symbol. The SMS 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 SMS gene?

The SMS gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Specifically, the enzyme carries out the reaction that creates spermine from a related polyamine, spermidine.

Polyamines have many critical functions within cells. Studies suggest that these molecules play roles in cell growth and division, the production of new proteins, the repair of damaged tissues, and the controlled self-destruction of cells (apoptosis). Polyamines also appear to be necessary for normal development of the brain and other parts of the body.

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

Snyder-Robinson syndrome - caused by mutations in the SMS gene

At least four mutations in the SMS gene have been found to cause Snyder-Robinson syndrome, a condition characterized by intellectual disability and bone and muscle abnormalities. The condition only occurs in males. Most of the identified mutations change a single protein building block (amino acid) in the spermine synthase enzyme. All of the known mutations greatly reduce or eliminate the activity of spermine synthase, which decreases the amount of spermine in cells. A shortage of this polyamine clearly impacts normal development, including the development of the brain, muscles, and bones, but it is unknown how it leads to the specific signs and symptoms of Snyder-Robinson syndrome.

Where is the SMS gene located?

Cytogenetic Location: Xp22.1

Molecular Location on the X chromosome: base pairs 21,940,572 to 22,007,212

The SMS gene is located on the short (p) arm of the X chromosome at position 22.1.

The SMS gene is located on the short (p) arm of the X chromosome at position 22.1.

More precisely, the SMS gene is located from base pair 21,940,572 to base pair 22,007,212 on the X chromosome.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SMS?

You and your healthcare professional may find the following resources about SMS 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 SMS gene or gene products?

  • spermidine aminopropyltransferase
  • spermine synthase isoform 1
  • spermine synthase isoform 2
  • SPMSY
  • SpS
  • SPSY_HUMAN
  • SRS

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 SMS?

amino acid ; apoptosis ; cell ; disability ; enzyme ; gene ; molecule ; polyamine ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 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.

 
Reviewed: August 2013
Published: July 21, 2014