Function
Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of MYMX. Acts independently of MYMX.
Biological Context
Subcellular Location: Cell membrane (Multi-pass membrane protein); Golgi apparatus membrane (Multi-pass membrane protein)
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Protein myomaker (MYMK) Protein is a recombinant protein from Homo sapiens (Human), expressed in in vitro E.coli expression system, covering amino acids 1-221aa, with N-terminal 10xHis-tagged tag, molecular weight 26.2kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
