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
- Bi et al., Control of muscle formation by the fusogenic micropeptide myomixer, Science 2017
- Ramirez-Martinez et al., Impaired myomixer activity causes myopathy resembling Carey-Fineman-Ziter syndrome, Journal of Clinical Investigation 2022
- Rahman et al., Bi-allelic MYMX variants cause a syndromic congenital myopathy, European Journal of Human Genetics 2025
- 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.