MYMK
Function
Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28681861). Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of MYMX. Acts independently of MYMX (By similarity). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (By similarity). Also involved in skeletal muscle hypertrophy, probably by mediating the fusion of satellite cells with myofibers (By similarity).
Involvement in disease
Carey-Fineman-Ziter syndrome 1
CFZS1
An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high-arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Palmitoylated at the C-terminus; palmitoylation promotes localization to the Golgi apparatus.
Sequence Similarities
Belongs to the TMEM8 family.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Golgi apparatus membrane
- Multi-pass membrane protein
- Localizes on the plasma membrane of myoblasts, where it mediates myoblasts fusion. Also localizes in the Golgi apparatus and post-Golgi following palmitoylation; the role of Golgi localization is unclear.
Alternative names
TMEM226, TMEM8C, MYMK, Protein myomaker, Myoblast fusion maker, Transmembrane protein 226, Transmembrane protein 8C