PRDM6 Chromosome 5
PR/SET domain 6
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What This Gene Does
The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PR/SET domain family|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
5q23.2
Ensembl
ENSG00000061455
Associated Conditions (1)
Patent ductus arteriosus 3
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS879253872 | Health Risk | Pathogenic | Patent ductus arteriosus 3, Patent ductus arteriosus 3 |
| RS879255278 | Health Risk | Pathogenic | Patent ductus arteriosus 3, Patent ductus arteriosus 3 |
| RS879255279 | Health Risk | Pathogenic | Patent ductus arteriosus 3, Patent ductus arteriosus 3 |