MYMK

Chr 9AR

myomaker, myoblast fusion factor

Also known as: MYOMAKER, TMEM226, TMEM8C

NCBI Gene: 389827 ENSG00000187616 UniProt: A6NI61 OMIM: 615345

The protein mediates myoblast fusion, an essential step in forming multi-nucleated muscle fibers and skeletal muscle regeneration. Mutations cause Carey-Fineman-Ziter syndrome, which follows autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI = 0.9998), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

DNmechanismARLOEUF 1.281 OMIM phenotype

Clinical Summary— MYMK

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Gene-Disease Validity (ClinGen)

obsolete Carey-Fineman-Ziter syndrome · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.28LOEUF

pLI 0.000

Z-score 0.94

OE 0.68 (0.39–1.28)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.76Z-score

OE missense 0.82 (0.71–0.96)

119 obs / 144.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.68 (0.39–1.28)

0≤0.351.4

Missense OE?0.82 (0.71–0.96)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 7 / 10.2Missense obs/exp: 119 / 144.8Syn Z: 0.20

This gene — mechanism propensity

0.75top 25%

GOF

0.5759th %ile

LOF

0.3455th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.