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Reviewed August 2013

What is the official name of the ZMPSTE24 gene?

The official name of this gene is “zinc metallopeptidase STE24.”

ZMPSTE24 is the gene's official symbol. The ZMPSTE24 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 ZMPSTE24 gene?

The ZMPSTE24 gene provides instructions for making a protein that acts as a protease, which is an enzyme that cuts (cleaves) other proteins. The ZMPSTE24 protein cuts an immature version of the lamin A protein (prelamin A) at a particular location; this cleavage is an essential step in the maturation of lamin A.

Mature lamin A is a component of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes.

How are changes in the ZMPSTE24 gene related to health conditions?

mandibuloacral dysplasia - caused by mutations in the ZMPSTE24 gene

At least four mutations in the ZMPSTE24 gene cause a form of mandibuloacral dysplasia called mandibuloacral dysplasia with type B lipodystrophy (MADB). This condition is characterized by a variety of signs and symptoms, which can include bone abnormalities, mottled or patchy skin coloring, and loss of fatty tissue under the skin affecting all parts of the body (type B lipodystrophy). ZMPSTE24 gene mutations that cause MADB lead to a reduction of functional ZMPSTE24 protein. As a result, prelamin A is not processed efficiently, and it builds up in cells. In addition, there is a shortage of mature lamin A. Some researchers speculate that these changes damage the nucleus, making cells more fragile. It is not known how the effects of ZMPSTE24 gene mutations relate to the specific signs and symptoms of MADB.

other disorders - caused by mutations in the ZMPSTE24 gene

Mutations in the ZMPSTE24 gene that completely eliminate the function of the ZMPSTE24 protein have been identified in newborns with a disorder called lethal restrictive dermopathy. Infants with this disorder have tight, rigid skin; underdeveloped lungs; and other abnormalities. They do not usually survive past the first week of life. Without any functional ZMPSTE24 protein, prelamin A accumulates and mature lamin A is absent; however, it is unclear how these changes lead to the severe signs and symptoms of lethal restrictive dermopathy.

Where is the ZMPSTE24 gene located?

Cytogenetic Location: 1p34

Molecular Location on chromosome 1: base pairs 40,258,050 to 40,294,184

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The ZMPSTE24 gene is located on the short (p) arm of chromosome 1 at position 34.

The ZMPSTE24 gene is located on the short (p) arm of chromosome 1 at position 34.

More precisely, the ZMPSTE24 gene is located from base pair 40,258,050 to base pair 40,294,184 on chromosome 1.

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

Where can I find additional information about ZMPSTE24?

You and your healthcare professional may find the following resources about ZMPSTE24 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 ZMPSTE24 gene or gene products?

  • CAAX prenyl protease 1 homolog
  • FACE1
  • FACE-1
  • farnesylated proteins-converting enzyme 1
  • HGPS
  • prenyl protein-specific endoprotease 1
  • PRO1
  • STE24
  • Ste24p
  • zinc metalloproteinase Ste24 homolog

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 ZMPSTE24?

dysplasia ; enzyme ; fatty tissue ; gene ; lamin ; lipodystrophy ; nuclear envelope ; nucleus ; protease ; protein ; tissue

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

See also Understanding Medical Terminology.

References (6 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: February 8, 2016