MRTFB Chromosome 16
Myocardin related transcription factor B
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What This Gene Does
Enables transcription coactivator activity. Involved in positive regulation of miRNA transcription; positive regulation of striated muscle tissue development; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in several cellular components, including glutamatergic synapse; postsynapse; and presynapse. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
Myocardin family
Locus Type
gene with protein product
Location
16p13.12
Ensembl
ENSG00000186260
Associated Conditions (1)
MRTFB-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544853698 | Health Risk | Pathogenic | MRTFB-related disorder, MRTFB-related disorder |
| RS2544865527 | Health Risk | Pathogenic | MRTFB-related disorder, MRTFB-related disorder |