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ZMPSTE24 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ZMPSTE24 gene

The ZMPSTE24 gene provides instructions for creating an enzyme essential for the maturation of lamin A, a protein that maintains the structure of the cell nucleus.

Normal Function

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

Mature lamin A is a component of the nuclear envelope, the membrane surrounding the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus and is believed to play a role in regulating the activity of certain genes.

Health Conditions Related to Genetic Changes

Mandibuloacral dysplasia

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, including:

  • Bone abnormalities
  • Mottled or patchy skin coloring
  • Loss of fatty tissue under the skin affecting all parts of the body (type B lipodystrophy)

Mutations that cause MADB lead to a reduction of functional ZMPSTE24 protein. Consequently, prelamin A is not processed efficiently and builds up in cells, while there is a shortage of mature lamin A. Researchers speculate that these changes damage the nucleus, making cells more fragile.

Other disorders

Mutations that completely eliminate the function of the ZMPSTE24 protein have been identified in newborns with lethal restrictive dermopathy. Infants with this disorder typically do not survive past the first week of life and exhibit:

  • Tight, rigid skin
  • Underdeveloped lungs
  • Other physical abnormalities

In these cases, prelamin A accumulates and mature lamin A is absent, though it remains unclear how these specific changes lead to the severe symptoms of this disorder.

Other Names for This Gene

  • CAAX prenyl protease 1 homolog
  • FACE-1
  • FACE1
  • FACE1_HUMAN
  • farnesylated proteins-converting enzyme 1
  • HGPS
  • prenyl protein-specific endoprotease 1
  • PRO1
  • STE24
  • Ste24p
  • zinc metalloproteinase Ste24 homolog

Frequently Asked Questions

Common early signs include short stature, delayed bone development, and distinctive facial features such as a small jaw or abnormal ear shape. Skin may appear mottled or have patchy discoloration, and there may be loss of subcutaneous fat in areas like the face, limbs, or trunk. If these features are noted, a pediatrician may refer for genetic evaluation.
Most individuals with MADB live into adulthood, but they may experience progressive bone fragility, cardiovascular issues, and metabolic complications such as insulin resistance. Early intervention with orthopedic care, cardiovascular monitoring, and metabolic support can improve quality of life and potentially extend lifespan.
Currently, no therapy directly reduces prelamin A accumulation. Management focuses on symptom relief: physical therapy for bone health, dietary and exercise plans to address lipodystrophy, and regular monitoring for heart and metabolic problems. Experimental approaches, such as farnesyltransferase inhibitors, are under investigation but not yet standard care.===
Diagnosis typically starts with a clinical assessment of bone abnormalities, skin changes, and fat loss. A definitive diagnosis requires DNA testing, usually through a targeted gene panel or whole-exome sequencing that looks for pathogenic variants in the ZMPSTE24 gene. A confirmed mutation confirms the diagnosis and helps guide management.
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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