PUS7 Chromosome 7
Pseudouridine synthase 7
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What This Gene Does
Enables enzyme binding activity and tRNA pseudouridine(13) synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Is active in nucleus. Implicated in intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Pseudouridine synthases
Locus Type
gene with protein product
Location
7q22.3
Ensembl
ENSG00000091127
Associated Conditions (6)
Intellectual developmental disorder with abnormal behavior
microcephaly
and short stature
Inborn genetic diseases
See cases
Pervasive developmental disorder
Key Variants
RS1264890888
Conflicting classifications of pathogenicity
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Health Risk
RS916775904
Conflicting classifications of pathogenicity
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Health Risk
RS1456834829
Likely pathogenic
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Health Risk
RS1586169255
Likely pathogenic
Health Risk
RS2133076941
Likely pathogenic
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Health Risk
RS2484846964
Likely pathogenic
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Health Risk
RS2484922041
Likely pathogenic
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Health Risk
RS765326959
Likely pathogenic
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Health Risk
RS1562818383
Pathogenic
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Health Risk
RS2133020609
Pathogenic
See cases, See cases
Health Risk
RS2133132945
Pathogenic
Health Risk
RS2484882987
Pathogenic
Pervasive developmental disorder, Intellectual developmental disorder with abnormal behavior, microcephaly
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1264890888 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS916775904 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS1456834829 | Health Risk | Likely pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS1586169255 | Health Risk | Likely pathogenic | — |
| RS2133076941 | Health Risk | Likely pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS2484846964 | Health Risk | Likely pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS2484922041 | Health Risk | Likely pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS765326959 | Health Risk | Likely pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS1562818383 | Health Risk | Pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS2133020609 | Health Risk | Pathogenic | See cases, See cases |
| RS2133132945 | Health Risk | Pathogenic | — |
| RS2484882987 | Health Risk | Pathogenic | Pervasive developmental disorder, Intellectual developmental disorder with abnormal behavior, microcephaly |
| RS752839979 | Health Risk | Pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS761121419 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual developmental disorder with abnormal behavior, microcephaly |
| RS772282094 | Health Risk | Pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS1444559235 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS2133254783 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
| RS769379928 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |