Please wait while page loads....
Details of YARS2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| YARS2 | --- | Q9Y2Z4 | SYYM_HUMAN | 51067
| ENSG00000139131
| Tyrosine--tRNA ligase, mitochondrial | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Myopathy with lactic acidosis and sideroblastic anemia 2 (MLASA2) [MIM:613561]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613561 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
