RPUSD3 Chromosome 3
RNA pseudouridine synthase D3
Upload your DNA to see your personal genotypes for variants in RPUSD3.
What This Gene Does
This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial protein production. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]
Gene Info
Gene Group
"RNA pseudouridylate synthase domain containing|Pseudouridine synthases"
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000156990
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142932960 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS767103943 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |