MYZAP Chromosome 15
Myocardial zonula adherens protein
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What This Gene Does
This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]
Associated Conditions (4)
Cardiomyopathy
dilated
2K
Primary dilated cardiomyopathy
Key Variants
RS765388136
Likely pathogenic
Cardiomyopathy, dilated, 2K
Health Risk
RS992189342
Likely pathogenic
Primary dilated cardiomyopathy, Cardiomyopathy, dilated
Health Risk
RS2551700360
Pathogenic
Cardiomyopathy, dilated, 2K
Health Risk
RS374878536
Pathogenic
Cardiomyopathy, dilated, 2K
Health Risk
RS375289402
Pathogenic
Cardiomyopathy, dilated, 2K
Health Risk
RS748202049
Pathogenic
Cardiomyopathy, dilated, 2K
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765388136 | Health Risk | Likely pathogenic | Cardiomyopathy, dilated, 2K |
| RS992189342 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Cardiomyopathy, dilated |
| RS2551700360 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2K |
| RS374878536 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2K |
| RS375289402 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2K |
| RS748202049 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2K |