Meyahealth
HomeGeneticsGeneTRIP13 gene
Back to Gene
TRIP13 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TRIP13 gene

The TRIP13 gene plays a critical role in cell division by regulating the spindle assembly checkpoint and ensuring proper chromosome separation.

Normal Function

The TRIP13 gene provides instructions for making a protein that has several roles in cell division. One important role is to help ensure proper chromosome separation when cells divide. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. The sets of chromosomes align within the cell, with each chromatid attached to a structure called a spindle microtubule; when all chromatids are correctly attached, the spindle microtubule pulls the two halves of the chromatid pair to opposite sides of the cell.

Cells have a mechanism, called the spindle assembly checkpoint, that delays cell division until each sister chromatid is attached to a spindle microtubule. The TRIP13 protein appears to regulate this checkpoint.

Health Conditions Related to Genetic Changes

Mosaic variegated aneuploidy syndrome

At least two TRIP13 gene mutations have been found to cause mosaic variegated aneuploidy (MVA) syndrome. This condition is typically characterized by cells with abnormal numbers of chromosomes, a situation known as aneuploidy. Individuals with MVA syndrome caused by TRIP13 gene mutations may experience:

  • A high risk of developing a form of kidney cancer called Wilms tumor in childhood
  • Slow growth
  • An unusually small head size (microcephaly)

TRIP13 gene mutations involved in MVA syndrome lead to the production of an abnormally short protein that is quickly broken down. A shortage of this protein impairs the spindle assembly checkpoint, and cell division proceeds even if not all chromatids are attached to spindle microtubules. Unattached chromatids are not positioned correctly for separation, and the resulting cells often have abnormal numbers of chromosomes.

Other Names for This Gene

  • 16E1-BP
  • 16E1BP
  • HPV16 E1 protein binding protein
  • human papillomavirus type 16 E1 protein-binding protein
  • pachytene checkpoint protein 2 homolog isoform 1
  • pachytene checkpoint protein 2 homolog isoform 2
  • thyroid receptor-interacting protein 13
  • TR-interacting protein 13
  • TRIP-13

Frequently Asked Questions

Diagnosis usually starts with a clinical evaluation for growth delay, microcephaly, and a history of Wilms tumor. Chromosomal analysis of blood or skin fibroblasts can reveal mosaic aneuploidy, and definitive confirmation requires sequencing of the TRIP13 gene (either targeted panel or whole‑exome sequencing) to identify pathogenic variants.
TRIP13‑related MVA follows an autosomal recessive pattern, meaning both copies of the gene must be altered to cause disease. A carrier (one mutated copy) has a 50 % chance of passing the variant to each child, but carriers are typically asymptomatic and do not have an increased Wilms tumor risk. Only if the partner is also a carrier would a child be at risk for MVA.
Guidelines suggest abdominal ultrasound every 3 months from birth until age 8, combined with regular physical exams. Some centers add serum markers (e.g., urinary catecholamines) and consider MRI if ultrasound findings are equivocal. Early detection dramatically improves outcomes.
There is no specific drug to replace the missing TRIP13 protein, but multidisciplinary care can optimize outcomes: growth hormone therapy may be considered for documented growth failure, early intervention services support neurodevelopment, and regular monitoring of renal function helps manage kidney‑related complications.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ