MYOCD Chromosome 17
Myocardin
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What This Gene Does
This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Myocardin family
Locus Type
gene with protein product
Location
17p12
Ensembl
ENSG00000141052
Associated Conditions (3)
Megabladder
congenital
Prune belly syndrome
Key Variants
RS148826320
Conflicting classifications of pathogenicity
Megabladder, congenital, Megabladder
Health Risk
RS201621132
Conflicting classifications of pathogenicity
Health Risk
RS2150711288
Likely pathogenic
Megabladder, congenital, Megabladder
Health Risk
RS1597782599
Pathogenic
Prune belly syndrome, Megabladder, congenital
Health Risk
RS1597802479
Pathogenic
Prune belly syndrome, Megabladder, congenital
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148826320 | Health Risk | Conflicting classifications of pathogenicity | Megabladder, congenital, Megabladder |
| RS201621132 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2150711288 | Health Risk | Likely pathogenic | Megabladder, congenital, Megabladder |
| RS1597782599 | Health Risk | Pathogenic | Prune belly syndrome, Megabladder, congenital |
| RS1597802479 | Health Risk | Pathogenic | Prune belly syndrome, Megabladder, congenital |