CAVIN4 Chromosome 9
Caveolae associated protein 4
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What This Gene Does
This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
Cavins
Locus Type
gene with protein product
Location
9q31.1
Ensembl
ENSG00000170681
Associated Conditions (1)
Primary dilated cardiomyopathy
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149165620 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746462546 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS751703046 | Health Risk | Conflicting classifications of pathogenicity | — |