MYMK

Chr 9AR

myomaker, myoblast fusion factor

Also known as: MYOMAKER, TMEM226, TMEM8C

NCBI Gene: 389827ENSG00000187616UniProt: A6NI61OMIM: 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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
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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ClinVar Variants
17 unique Pathogenic / Likely Pathogenic· 53 VUS of 99 total submissions
Explore recent and relevant literature in Research Assistant →

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 OE0.68 (0.39–1.28)
0≤0.351.4
Missense OE0.82 (0.71–0.96)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 7 / 10.2Missense obs/exp: 119 / 144.8Syn Z: 0.20
DN
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.

ClinVar Variant Classifications

99 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic3
VUS53
Likely Benign11
Benign17
14
Pathogenic
3
Likely Pathogenic
53
VUS
11
Likely Benign
17
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
13
0
14
Likely Pathogenic
0
2
1
0
3
VUS
2
40
11
0
53
Likely Benign
0
0
1
10
11
Benign
0
0
13
4
17
Total342391498

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MYMK · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients