MYMK Chromosome 9
Myomaker, myoblast fusion factor
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What This Gene Does
Involved in myoblast fusion. Located in plasma membrane. Implicated in Carey-Fineman-Ziter syndrome. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
TMEM8 family
Locus Type
gene with protein product
Location
9q34.2
Ensembl
ENSG00000187616
Associated Conditions (4)
Congenital nonprogressive myopathy with Moebius and Robin sequences
Carey-Fineman-Ziter syndrome 1
MYMK-related disorder
See cases
Key Variants
RS1432065625
Likely pathogenic
Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences
Health Risk
RS1131692247
Pathogenic
Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences
Health Risk
RS1131692248
Pathogenic
Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences
Health Risk
RS1131692249
Pathogenic
Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences
Health Risk
RS137868995
Pathogenic/Likely pathogenic
Congenital nonprogressive myopathy with Moebius and Robin sequences, Carey-Fineman-Ziter syndrome 1, MYMK-related disorder
Health Risk
RS964335184
Pathogenic/Likely pathogenic
Congenital nonprogressive myopathy with Moebius and Robin sequences, See cases, Congenital nonprogressive myopathy with Moebius and Robin sequences
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1432065625 | Health Risk | Likely pathogenic | Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences |
| RS1131692247 | Health Risk | Pathogenic | Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences |
| RS1131692248 | Health Risk | Pathogenic | Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences |
| RS1131692249 | Health Risk | Pathogenic | Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences |
| RS137868995 | Health Risk | Pathogenic/Likely pathogenic | Congenital nonprogressive myopathy with Moebius and Robin sequences, Carey-Fineman-Ziter syndrome 1, MYMK-related disorder |
| RS964335184 | Health Risk | Pathogenic/Likely pathogenic | Congenital nonprogressive myopathy with Moebius and Robin sequences, See cases, Congenital nonprogressive myopathy with Moebius and Robin sequences |