DDRGK1 Chromosome 20
DDRGK domain containing 1
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What This Gene Does
The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]
Associated Conditions (2)
Spondyloepimetaphyseal dysplasia
Shohat type
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1600475941 | Health Risk | Likely pathogenic | — |
| RS1011589357 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Shohat type, Spondyloepimetaphyseal dysplasia |
| RS1325869434 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Shohat type, Spondyloepimetaphyseal dysplasia |