TRIM63 Chromosome 1
Tripartite motif containing 63
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What This Gene Does
This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"Ring finger proteins|Tripartite motif family"
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000158022
Associated Conditions (10)
Primary familial hypertrophic cardiomyopathy
TRIM63-related disorder
Cardiovascular phenotype
Inborn genetic diseases
Hypertrophic cardiomyopathy
Cardiomyopathy
familial hypertrophic
31
See cases
Idiopathic cardiomyopathy
Key Variants
RS140523053
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, TRIM63-related disorder, Cardiovascular phenotype
Health Risk
RS141049472
Conflicting classifications of pathogenicity
Health Risk
RS148395034
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Inborn genetic diseases, Hypertrophic cardiomyopathy
Health Risk
RS200811483
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS377334933
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS556820261
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61749355
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
Health Risk
RS540072010
Pathogenic
Inborn genetic diseases, Hypertrophic cardiomyopathy, See cases
Health Risk
RS750765152
Pathogenic
Idiopathic cardiomyopathy, Idiopathic cardiomyopathy
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140523053 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, TRIM63-related disorder, Cardiovascular phenotype |
| RS141049472 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148395034 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Inborn genetic diseases, Hypertrophic cardiomyopathy |
| RS200811483 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS377334933 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS556820261 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61749355 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy |
| RS540072010 | Health Risk | Pathogenic | Inborn genetic diseases, Hypertrophic cardiomyopathy, See cases |
| RS750765152 | Health Risk | Pathogenic | Idiopathic cardiomyopathy, Idiopathic cardiomyopathy |