MYMK

Chr 9AR

myomaker, myoblast fusion factor

Also known as: MYOMAKER, TMEM226, TMEM8C

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

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Carey-Fineman-Ziter syndromeMIM #254940
AR

Clinical highlights

Gene-disease validity (ClinGen)
obsolete Carey-Fineman-Ziter syndrome · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
19
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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