PUS1 Chromosome 12
Pseudouridine synthase 1
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What This Gene Does
This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Pseudouridine synthases
Locus Type
gene with protein product
Location
12q24.33
Ensembl
ENSG00000177192
Associated Conditions (7)
Myopathy
lactic acidosis
and sideroblastic anemia 1
PUS1-related disorder
Inborn genetic diseases
and sideroblastic anemia
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Key Variants
RS1045133170
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS138198591
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS143660941
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS145430883
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS148057665
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS149324363
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199863621
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS200065515
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS200591614
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS201441662
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS201541270
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
RS201753270
Conflicting classifications of pathogenicity
Myopathy, lactic acidosis, and sideroblastic anemia 1
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2136428332 | Health Risk | Pathogenic | — |
| RS2136444136 | Health Risk | Pathogenic | — |
| RS2540862725 | Health Risk | Pathogenic | — |
| RS2540870148 | Health Risk | Pathogenic | — |
| RS2540870188 | Health Risk | Pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS2540870266 | Health Risk | Pathogenic | — |
| RS2540870275 | Health Risk | Pathogenic | — |
| RS2540870285 | Health Risk | Pathogenic | — |
| RS2540872831 | Health Risk | Pathogenic | — |
| RS2540873106 | Health Risk | Pathogenic | — |
| RS2540873281 | Health Risk | Pathogenic | — |
| RS2540873437 | Health Risk | Pathogenic | — |
| RS2540873599 | Health Risk | Pathogenic | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B |
| RS2540873640 | Health Risk | Pathogenic | — |
| RS2541388871 | Health Risk | Pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS2541388910 | Health Risk | Pathogenic | — |
| RS2541389318 | Health Risk | Pathogenic | — |
| RS768126003 | Health Risk | Pathogenic | — |
| RS779193823 | Health Risk | Pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS779651314 | Health Risk | Pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS866298268 | Health Risk | Pathogenic | — |
| RS104894371 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS1309276486 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS1323139544 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS1555268564 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia |
| RS1566148136 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS2540862808 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS754855677 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |
| RS895175332 | Health Risk | Pathogenic/Likely pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 1 |