MYF5 Chromosome 12
Myogenic factor 5
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What This Gene Does
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to contribute to E-box binding activity. Predicted to be involved in several processes, including muscle cell fate commitment; positive regulation of cell differentiation; and skeletal muscle cell differentiation. Predicted to act upstream of or within several processes, including positive regulation of transcription by RNA polymerase II; skeletal system morphogenesis; and somitogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Basic helix-loop-helix proteins|Myogenic regulatory family"
Locus Type
gene with protein product
Location
12q21.31
Ensembl
ENSG00000111049
Associated Conditions (6)
Ophthalmoplegia
external
with rib and vertebral anomalies
Abnormal rib morphology
External ophthalmoplegia
Scoliosis
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555216163 | Health Risk | Pathogenic | Ophthalmoplegia, external, with rib and vertebral anomalies |
| RS1565864693 | Health Risk | Pathogenic | External ophthalmoplegia, Scoliosis, Abnormal rib morphology |