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Metazoan complexes |
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Details of PUS1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PUS1 | --- | Q9Y606 | TRUA_HUMAN | 80324 | ENSG00000177192 | tRNA pseudouridine synthase A, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. Note=The disease is caused by mutations affecting the gene represented in this entry. | 600462 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Pus1 | CG4159 | pus-1 | Sp-Pus1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|