MYMK

Chr 9q34.2

myomaker, myoblast fusion factor

Aliases:: TMEM226, MYOMAKER
MANE:: ENST00000339996.4

OMIM: 615345 ↗NCBI: 389827 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYMK · A6NI61

v62025-08-01

Predicted Aligned Error matrix for MYMK — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.4/ 100

Very high

221 residues

Confidence breakdown

Very high(≥ 90)78%
Confident(70–90)10%
Low(50–70)12%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Carey-Fineman-Ziter syndrome
0.77
Carey-Fineman-Ziter syndrome
0.63
hereditary disease
0.19
multinodular goiter
0.18
ovarian dysfunction
0.18
muscular dystrophy, limb-girdle, autosomal dominant 4
0.05
autosomal recessive spondylocostal dysostosis
0.04
myopathy, reducing body, X-linked, childhood-onset
0.04
spondyloepiphyseal dysplasia tarda, autosomal dominant
0.04
myopathy, centronuclear, 6, with fiber-type disproportion
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein myomaker

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)