Where it comes from

Made in
Muscle precursor cells during development and regeneration; absent from mature fibres
Sent out by
Not secreted; it appears on the cell surface during fusion
Acts on
  • The membranes of two fusing myoblasts

What it does

  • Drives the final step of fusion after myomaker brings two cells together 1
  • Mice without it make muscle precursors that never join into fibres
  • Found by three laboratories in 2017, each giving it a name

In medicine

  • A recessive variant in it caused a myopathy resembling Carey-Fineman-Ziter syndrome, with weakness and facial features, in one family 2; further families with changes in both copies were reported in 2025, adding facial palsy and growth restriction to the picture 3
  • Because changes in its partner myomaker cause the same picture, the two genes are read together when a congenital myopathy with facial weakness is being worked up

Beyond the body’s own use

  • Myomaker and myomixer together make non-muscle cells fuse, and that has been turned into a delivery tool: viruses dressed in the pair home to skeletal muscle in mice, which is one answer to the oldest problem in muscle gene therapy 4
  • Nobody takes it, nothing copies it and there is nothing to obtain; the work on it is about delivery and about repair
  • What is being asked next is whether switching it back on in adult muscle helps regeneration, since mature fibres carry none of it 1

Sources

  1. Bi et al., Control of muscle formation by the fusogenic micropeptide myomixer, Science 2017
  2. Ramirez-Martinez et al., Impaired myomixer activity causes myopathy resembling Carey-Fineman-Ziter syndrome, Journal of Clinical Investigation 2022
  3. Rahman et al., Bi-allelic MYMX variants cause a syndromic congenital myopathy, European Journal of Human Genetics 2025
  4. Hindi et al., Enveloped viruses pseudotyped with myogenic fusogens target skeletal muscle for gene delivery, Cell 2023

This card describes what a medicine is for and what the evidence says; it recommends nothing. Talk to your clinician about anything you read here.